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Baylor Genetics, BCM: BMGL

General information

Baylor Genetics, BCM: BMGL

2450 Holcombe, Grand Blvd. - Sample Receiving Dock
Houston
Texas
United States - 77021-2024
https://www.baylorgenetics.com/
Organization ID: 1006

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 11690

Gene

GeneSubmissionsLast Updated
AAAS1Feb 21, 2021
AAGAB1Feb 21, 2021
AARS15Mar 5, 2021
AARS210Mar 5, 2021
AASS1Feb 21, 2021
ABCA14Mar 5, 2021
ABCA34Mar 5, 2021
ABCA46Mar 5, 2021
ABCB12Mar 5, 2021
ABCB115Mar 5, 2021
ABCB47Mar 5, 2021
ABCC25Feb 21, 2021
ABCC68Mar 5, 2021
ABCC85Mar 5, 2021
ABCC94Mar 5, 2021
ABCD15Feb 21, 2021
ABCG52Feb 21, 2021
ABCG82Mar 5, 2021
ABHD122Mar 5, 2021
ABHD14A-ACY16Mar 5, 2021
ABL17Mar 5, 2021
ACACA1Feb 21, 2021
ACAD111Feb 21, 2021
ACAD85Mar 5, 2021
ACAD99Mar 5, 2021
ACADM3Mar 5, 2021
ACADS1Mar 5, 2021
ACADSB6Mar 5, 2021
ACADVL13Oct 7, 2022
ACAN5Mar 5, 2021
ACD1Mar 5, 2021
ACE3Mar 5, 2021
ACER31Feb 21, 2021
ACO27Mar 5, 2021
ACOX13Mar 5, 2021
ACOX21Mar 5, 2021
ACP53Mar 5, 2021
ACSF36Mar 5, 2021
ACTA110Mar 5, 2021
ACTA21Oct 16, 2017
ACTB12Jul 1, 2021
ACTC12Mar 5, 2021
ACTG14Mar 5, 2021
ACTG23Mar 5, 2021
ACTL6A5Jul 1, 2021
ACTL6B4Jul 1, 2021
ACTN11Feb 21, 2021
ACTN23Feb 21, 2021
ACTN42Mar 5, 2021
ACVR11Mar 14, 2019
ACVR2B1Feb 21, 2021
ACVRL12Mar 5, 2021
ACY16Mar 5, 2021
ADA2Feb 21, 2021
ADA27Mar 5, 2021
ADAM172Mar 5, 2021
ADAMTS102Mar 5, 2021
ADAMTS135Mar 5, 2021
ADAMTS171Mar 5, 2021
ADAMTS27Mar 5, 2021
ADAR6Mar 5, 2021
ADAT37Mar 5, 2021
ADCY11Feb 21, 2021
ADCY55Mar 5, 2021
ADD33Feb 21, 2021
ADGRG13Mar 5, 2021
ADGRG21Feb 21, 2021
ADGRG61Feb 21, 2021
ADGRV111Mar 5, 2021
ADK1Feb 21, 2021
ADNP6Mar 5, 2021
ADNP-AS12Feb 21, 2021
ADPRS3Feb 21, 2021
ADRA2B3Mar 5, 2021
ADSL8Mar 5, 2021
ADSS11Feb 21, 2021
AEBP13Mar 5, 2021
AFF24Feb 21, 2021
AFF43Mar 5, 2021
AFG3L24Mar 5, 2021
AGA1Feb 21, 2021
AGK4Mar 5, 2021
AGL10Mar 5, 2021
AGPAT22Nov 14, 2016
AGRN14Mar 5, 2021
AGTPBP13Feb 21, 2021
AGXT5Sep 27, 2019
AHDC113Mar 5, 2021
AHI14Mar 5, 2021
AHSG2Mar 5, 2021
AIFM12Feb 21, 2021
AIP2Feb 10, 2021
AIRE2Mar 5, 2021
AK24Mar 5, 2021
AKAP95Mar 5, 2021
AKR1D13Feb 21, 2021
AKT11Mar 5, 2021
AKT21Mar 5, 2021
ALAD1Mar 5, 2021
ALDH18A16Mar 5, 2021
ALDH3A25Mar 5, 2021
ALDH4A13Mar 5, 2021
ALDH5A13Mar 5, 2021
ALDH6A11Mar 5, 2021
ALDH7A15Mar 5, 2021
ALDOB5Sep 27, 2019
ALG14Mar 5, 2021
ALG113Mar 5, 2021
ALG123Feb 21, 2021
ALG134Mar 5, 2021
ALG23Mar 5, 2021
ALG34Mar 5, 2021
ALG65Feb 21, 2021
ALG86Mar 5, 2021
ALG93Mar 5, 2021
ALK12Feb 11, 2022
ALMS113Mar 5, 2021
ALOX12B6Mar 5, 2021
ALOXE31Feb 21, 2021
ALPK34Feb 21, 2021
ALPL3Mar 5, 2021
ALS22Feb 21, 2021
ALX41Mar 5, 2021
AMACR1Feb 21, 2021
AMER14Feb 21, 2021
AMN1Mar 5, 2021
AMPD13Mar 5, 2021
AMPD25Mar 5, 2021
AMT5Feb 21, 2021
ANK12Feb 21, 2021
ANK25Mar 5, 2021
ANK38Mar 5, 2021
ANKLE22Feb 21, 2021
ANKRD1144Mar 5, 2021
ANKRD264Mar 5, 2021
ANKS63Mar 5, 2021
ANLN1Feb 21, 2021
ANO103Mar 5, 2021
ANO55Mar 5, 2021
ANOS12Feb 21, 2021
ANTXR11Mar 5, 2021
ANTXR25Mar 5, 2021
AOPEP16Oct 7, 2022
AP2S11Feb 21, 2021
AP3B27Mar 5, 2021
AP4B16Mar 5, 2021
AP4B1-AS15Mar 5, 2021
AP4E13Mar 5, 2021
AP4M19Mar 5, 2021
AP4S12Mar 5, 2021
AP5Z111Mar 5, 2021
APBB12Sep 27, 2019
APC23Feb 11, 2022
APC26Mar 5, 2021
APOB5Mar 5, 2021
APOL11Mar 5, 2021
APP1Feb 21, 2021
APTX2Mar 5, 2021
AQP23Feb 21, 2021
AQP5-AS11Feb 21, 2021
AR2Feb 21, 2021
ARCN12Mar 5, 2021
ARFGEF13Feb 21, 2021
ARFGEF1-DT2Mar 5, 2021
ARFGEF24Mar 5, 2021
ARG14Feb 21, 2021
ARHGAP313Feb 21, 2021
ARHGDIA2Feb 21, 2021
ARHGEF104Mar 5, 2021
ARHGEF182Mar 5, 2021
ARHGEF21Feb 21, 2021
ARHGEF62Feb 21, 2021
ARHGEF93Mar 5, 2021
ARID1A29Jul 1, 2021
ARID1B84Jul 1, 2021
ARID215Jul 1, 2021
ARL13B1Mar 5, 2021
ARL61Feb 21, 2021
ARMC52Mar 5, 2021
ARMC92Mar 5, 2021
ARMCX5-GPRASP21Feb 21, 2021
ARNT21Mar 5, 2021
ARPC1B4Mar 5, 2021
ARSA12Mar 5, 2021
ARSB1Feb 21, 2021
ARV12Mar 5, 2021
ARX4Feb 21, 2021
ASAH16Mar 5, 2021
ASCC12Feb 21, 2021
ASH1L13Mar 5, 2021
ASIC4-AS12Feb 21, 2021
ASL7Feb 21, 2021
ASNS3Mar 5, 2021
ASPA15Oct 7, 2022
ASPM21Mar 5, 2021
ASS138Oct 7, 2022
ASTN24Mar 5, 2021
ASXL19Mar 5, 2021
ASXL25Mar 5, 2021
ASXL310Mar 5, 2021
ATAD3A7Mar 5, 2021
ATCAY1Feb 21, 2021
ATF61Mar 5, 2021
ATIC1Feb 21, 2021
ATL14Mar 5, 2021
ATM45Sep 14, 2022
ATP13A211Mar 5, 2021
ATP1A11Feb 21, 2021
ATP1A1-AS11Feb 21, 2021
ATP1A22Feb 21, 2021
ATP1A36Mar 5, 2021
ATP2A13Mar 5, 2021
ATP2B35Mar 5, 2021
ATP5F1A1Mar 5, 2021
ATP5MK1Feb 21, 2021
ATP6V0A22Mar 5, 2021
ATP6V1A1Feb 21, 2021
ATP6V1B11Feb 21, 2021
ATP6V1B21Feb 21, 2021
ATP7A9Mar 5, 2021
ATP7B19Oct 7, 2022
ATP8A24Mar 5, 2021
ATP8B15Mar 5, 2021
ATP8B1-AS13Mar 5, 2021
ATPAF24Mar 5, 2021
ATR1Mar 5, 2021
ATRIP8Mar 5, 2021
ATRIP-TREX18Mar 5, 2021
ATRX14Mar 5, 2021
ATXN7L3-AS11Feb 21, 2021
AUH1Mar 5, 2021
AUTS24Mar 5, 2021
AVPR21Nov 14, 2016
AXIN210Dec 6, 2021
B3GALNT23Mar 5, 2021
B3GALT21Mar 5, 2021
B3GALT66Mar 5, 2021
B3GAT32Feb 21, 2021
B3GLCT1Mar 5, 2021
B4GALNT11Feb 21, 2021
B4GALT12Mar 5, 2021
B4GALT1-AS11Mar 5, 2021
B4GALT72Mar 5, 2021
B9D13Mar 5, 2021
BACH21Feb 21, 2021
BAG33Mar 5, 2021
BAP14Dec 6, 2021
BARD13Feb 10, 2021
BBOF11Mar 5, 2021
BBS112Oct 7, 2022
BBS107Mar 5, 2021
BBS123Mar 5, 2021
BBS21Feb 21, 2021
BBS42Feb 21, 2021
BBS52Mar 5, 2021
BBS74Mar 5, 2021
BBS91Feb 21, 2021
BCAP312Feb 21, 2021
BCKDHB1Feb 21, 2021
BCKDK3Mar 5, 2021
BCL11A5Jul 1, 2021
BCL11B10Jul 1, 2021
BCOR1Feb 21, 2021
BCORL13Feb 21, 2021
BCS1L9Oct 7, 2022
BDP11Feb 21, 2021
BEST11Feb 21, 2021
BFSP21Mar 5, 2021
BGN4Mar 5, 2021
BICD23Mar 5, 2021
BICRA1Jul 1, 2021
BIN13Mar 5, 2021
BIVM-ERCC516Dec 6, 2021
BLK1Feb 21, 2021
BLM18Dec 6, 2021
BLNK2Mar 5, 2021
BLOC1S31Mar 5, 2021
BLOC1S61Mar 5, 2021
BLTP110Mar 5, 2021
BLVRA1Feb 21, 2021
BMP13Mar 5, 2021
BMP21Mar 5, 2021
BMPR1A5Dec 6, 2021
BMPR1B1Mar 5, 2021
BMPR21Feb 21, 2021
BNC11Feb 21, 2021
BOLA34Feb 21, 2021
BPTF19Mar 5, 2021
BRAF11Mar 5, 2021
BRAT110Mar 5, 2021
BRCA173Feb 11, 2022
BRCA2107Dec 6, 2021
BRCC31Apr 1, 2019
BRF14Feb 21, 2021
BRIP17Dec 6, 2021
BRPF18Mar 5, 2021
BRWD11Oct 16, 2017
BRWD35Feb 21, 2021
BSCL25Mar 5, 2021
BSND1Feb 21, 2021
BTD1Feb 21, 2021
BTK1Mar 5, 2021
BUB1B7Feb 21, 2021
BUB1B-PAK61Feb 10, 2021
C10orf551Feb 21, 2021
C11orf6517Sep 14, 2022
C12orf573Mar 5, 2021
C12orf601Mar 5, 2021
C17orf1077Mar 5, 2021
C19orf121Feb 21, 2021
C1QC1Feb 21, 2021
C1QTNF3-AMACR1Feb 21, 2021
C1QTNF51Aug 17, 2015
C1orf1054Mar 5, 2021
C1orf1671Mar 5, 2021
C21Mar 5, 2021
C2CD32Mar 5, 2021
C32Mar 5, 2021
C4A2Mar 5, 2021
C4B1Mar 5, 2021
C54Mar 5, 2021
C61Mar 5, 2021
C72Mar 5, 2021
C8B2Mar 5, 2021
C91Mar 5, 2021
CA121Feb 21, 2021
CA22Feb 21, 2021
CACNA1A27Mar 5, 2021
CACNA1B3Mar 5, 2021
CACNA1C4Feb 21, 2021
CACNA1C-AS11Feb 21, 2021
CACNA1D3Mar 5, 2021
CACNA1F1Mar 5, 2021
CACNA1G8Mar 5, 2021
CACNA1H18Mar 5, 2021
CACNA1S3Mar 5, 2021
CACNA2D21Feb 21, 2021
CACNB21Feb 21, 2021
CACNB41Nov 14, 2016
CAD15Mar 5, 2021
CALR1Feb 21, 2021
CAMTA19Mar 5, 2021
CANT12Mar 5, 2021
CAPN11Feb 21, 2021
CAPN316Mar 5, 2021
CARD117Mar 5, 2021
CARD141Sep 27, 2019
CARMIL22Feb 21, 2021
CARS28Mar 5, 2021
CARTPT1Mar 5, 2021
CASD13Feb 21, 2021
CASK5Feb 21, 2021
CASP103Mar 5, 2021
CASP142Feb 21, 2021
CASP85Mar 5, 2021
CASQ21Mar 5, 2021
CASR2Mar 5, 2021
CBL5Dec 6, 2021
CBLIF1Mar 5, 2021
CBS8Feb 21, 2021
CC2D1A15Mar 5, 2021
CC2D2A14Mar 5, 2021
CCBE13Feb 21, 2021
CCDC1032Mar 5, 2021
CCDC1151Mar 5, 2021
CCDC1411Feb 21, 2021
CCDC1744Feb 21, 2021
CCDC224Mar 5, 2021
CCDC301Feb 21, 2021
CCDC392Mar 5, 2021
CCDC403Mar 5, 2021
CCDC501Mar 5, 2021
CCDC653Mar 5, 2021
CCDC781Mar 5, 2021
CCDC83Mar 5, 2021
CCDC88A1Mar 5, 2021
CCDC88C8Mar 5, 2021
CCM22Mar 5, 2021
CCN62Feb 21, 2021
CCND22Mar 5, 2021
CCNH2Mar 5, 2021
CCNO1Mar 5, 2021
CCT52Mar 5, 2021
CD1512Feb 21, 2021
CD192Mar 5, 2021
CD2AP2Feb 21, 2021
CD3D1Mar 5, 2021
CD3E2Mar 5, 2021
CD3G1Feb 21, 2021
CD401Feb 21, 2021
CD461Feb 21, 2021
CD79A3Mar 5, 2021
CD8A1Mar 5, 2021
CD963Feb 21, 2021
CDAN14Mar 5, 2021
CDC14A2Feb 21, 2021
CDC421Feb 21, 2021
CDC452Mar 5, 2021
CDC731Mar 5, 2021
CDH13Mar 5, 2021
CDH157Mar 5, 2021
CDH2316Oct 7, 2022
CDH23-AS11Feb 21, 2021
CDH31Feb 21, 2021
CDK108Mar 5, 2021
CDK1312Mar 5, 2021
CDK5RAP212Mar 5, 2021
CDKL56Mar 5, 2021
CDKN1B4Dec 6, 2021
CDKN1C2Mar 5, 2021
CDKN2A3Dec 6, 2021
CDSN1Feb 21, 2021
CDT11Feb 21, 2021
CEACAM162Mar 5, 2021
CEBPA1Feb 10, 2021
CEL2Mar 5, 2021
CENPE4Mar 5, 2021
CENPF11Mar 5, 2021
CENPJ7Mar 5, 2021
CEP1042Mar 5, 2021
CEP1205Mar 5, 2021
CEP1354Mar 5, 2021
CEP1523Mar 5, 2021
CEP1642Feb 21, 2021
CEP29013Mar 5, 2021
CEP413Mar 5, 2021
CEP551Feb 21, 2021
CEP5711Feb 11, 2022
CEP635Mar 5, 2021
CEP781Feb 21, 2021
CEP831Feb 21, 2021
CEP85L2Feb 21, 2021
CERS13Mar 5, 2021
CFAP4102Mar 5, 2021
CFAP431Feb 21, 2021
CFAP441Feb 21, 2021
CFAP44-AS11Feb 21, 2021
CFAP521Apr 1, 2019
CFAP531Feb 21, 2021
CFAP651Feb 21, 2021
CFH6Mar 5, 2021
CFHR11Feb 21, 2021
CFHR52Feb 21, 2021
CFI2Feb 21, 2021
CFL21Feb 21, 2021
CFTR213Oct 7, 2022
CFTR-AS125Oct 7, 2022
CHAMP13Mar 5, 2021
CHAT11Mar 5, 2021
CHD17Mar 5, 2021
CHD29Mar 5, 2021
CHD34Feb 21, 2021
CHD410Mar 5, 2021
CHD719Mar 5, 2021
CHD810Mar 5, 2021
CHEK213Feb 11, 2022
CHKB2Feb 21, 2021
CHKB-CPT1B2Feb 21, 2021
CHMP1A6Mar 5, 2021
CHRNA12Mar 5, 2021
CHRNA21Feb 21, 2021
CHRNA47Mar 5, 2021
CHRNA71Oct 16, 2017
CHRNB22Mar 5, 2021
CHRND4Mar 5, 2021
CHRNE11Mar 5, 2021
CHRNG3Mar 5, 2021
CHROMR2Mar 14, 2019
CHST142Mar 5, 2021
CHST62Feb 21, 2021
CIC11Mar 5, 2021
CIITA6Mar 5, 2021
CIT7Mar 5, 2021
CITED21Mar 5, 2021
CKAP2L3Mar 5, 2021
CLCN16Mar 5, 2021
CLCN23Mar 5, 2021
CLCN42Feb 21, 2021
CLCN52Feb 21, 2021
CLCN71Feb 21, 2021
CLDN163Feb 21, 2021
CLEC7A1Feb 21, 2021
CLIC21Feb 21, 2021
CLN33Mar 5, 2021
CLN57Mar 5, 2021
CLN62Feb 21, 2021
CLN82Feb 21, 2021
CLP15Mar 5, 2021
CLPB10Mar 5, 2021
CLRN12Sep 27, 2019
CLRN1-AS11Sep 27, 2019
CLTC2Feb 21, 2021
CNGA33Feb 21, 2021
CNGB12Feb 21, 2021
CNGB31Feb 10, 2021
CNKSR23Feb 21, 2021
CNOT11Feb 21, 2021
CNOT32Feb 21, 2021
CNPY34Mar 5, 2021
CNPY3-GNMT4Mar 5, 2021
CNTN11Feb 21, 2021
CNTN23Mar 5, 2021
CNTNAP13Mar 5, 2021
CNTNAP217Mar 5, 2021
COA71Feb 21, 2021
COA82Mar 5, 2021
COASY4Mar 5, 2021
COCH1Feb 21, 2021
COG17Mar 5, 2021
COG22Feb 21, 2021
COG41Feb 21, 2021
COG54Mar 5, 2021
COG66Mar 5, 2021
COG710Mar 5, 2021
COG83Mar 5, 2021
COL10A11Feb 21, 2021
COL11A19Mar 5, 2021
COL11A23Mar 5, 2021
COL12A18Mar 5, 2021
COL13A13Mar 5, 2021
COL17A11Feb 21, 2021
COL18A13Mar 5, 2021
COL1A118Mar 5, 2021
COL1A211Mar 5, 2021
COL27A14Mar 5, 2021
COL2A15Mar 5, 2021
COL3A17Mar 5, 2021
COL4A114Oct 7, 2022
COL4A23Feb 21, 2021
COL4A34Mar 5, 2021
COL4A411Mar 5, 2021
COL4A58Mar 5, 2021
COL5A17Mar 5, 2021
COL5A22Feb 21, 2021
COL6A18Mar 5, 2021
COL6A210Mar 5, 2021
COL6A39Feb 21, 2021
COL7A16Oct 7, 2022
COL9A12Mar 5, 2021
COL9A31Nov 14, 2016
COLEC111Feb 21, 2021
COLQ3Mar 5, 2021
COMP1Feb 21, 2021
COPA3Mar 5, 2021
COQ26Mar 5, 2021
COQ45Mar 5, 2021
COQ8A7Mar 5, 2021
COQ8B4Mar 5, 2021
COQ92Mar 5, 2021
CORO1A1Mar 5, 2021
COX109Mar 5, 2021
COX152Mar 5, 2021
COX201Mar 5, 2021
COX4I21Mar 5, 2021
COX6B11Feb 21, 2021
COX7B1Feb 21, 2021
COX8A1Mar 5, 2021
CPA64Mar 5, 2021
CPAMD82Feb 21, 2021
CPEB1-AS17Mar 5, 2021
CPLANE117Mar 5, 2021
CPOX1Nov 14, 2016
CPS13Mar 5, 2021
CPT1A2Sep 27, 2019
CPT211Mar 5, 2021
CR211Mar 5, 2021
CRADD4Mar 5, 2021
CRB13Mar 5, 2021
CRB27Mar 5, 2021
CRBN5Mar 5, 2021
CREB3L11Mar 5, 2021
CREBBP14Mar 5, 2021
CRIPT3Feb 21, 2021
CRPPA4Feb 21, 2021
CRPPA-AS11Feb 21, 2021
CRTAP1Feb 21, 2021
CRYAB1Mar 5, 2021
CRYBA11Mar 5, 2021
CRYGC1Mar 5, 2021
CRYGD1Mar 14, 2019
CSF1R6Mar 5, 2021
CSF2RB2Mar 5, 2021
CSF3R4Mar 5, 2021
CSNK2A15Mar 5, 2021
CSNK2B1Feb 21, 2021
CSPP18Mar 5, 2021
CSRP31Feb 21, 2021
CTC13Mar 5, 2021
CTCF6Mar 5, 2021
CTH1Mar 5, 2021
CTLA42Feb 21, 2021
CTNNA21Feb 21, 2021
CTNNB16Mar 5, 2021
CTNND11Feb 21, 2021
CTNS2Sep 27, 2019
CTPS11Feb 21, 2021
CTRC2Feb 21, 2021
CTSA1Feb 21, 2021
CTSC1Feb 21, 2021
CTSD1Mar 5, 2021
CTSK1Feb 21, 2021
CTU21Feb 21, 2021
CUBN6Mar 5, 2021
CUL4B3Mar 5, 2021
CUL77Mar 5, 2021
CUX14Feb 21, 2021
CYBA2Mar 5, 2021
CYCS1Mar 5, 2021
CYFIP25Mar 5, 2021
CYLD1Dec 6, 2021
CYP11A11Mar 5, 2021
CYP11B11Feb 21, 2021
CYP1B18Oct 7, 2022
CYP21A22Feb 21, 2021
CYP24A13Mar 5, 2021
CYP26B11Feb 10, 2021
CYP27A15Feb 21, 2021
CYP27B11Feb 21, 2021
CYP2U13Mar 5, 2021
CYP2U1-AS11Mar 5, 2021
CYP4F224Mar 5, 2021
CYP7B15Mar 5, 2021
CZ1P-ASNS3Mar 5, 2021
D2HGDH6Mar 5, 2021
DAG12Feb 21, 2021
DAP31Mar 5, 2021
DARS14Mar 5, 2021
DARS21Mar 5, 2021
DBH2Mar 5, 2021
DCAF172Feb 21, 2021
DCC4Mar 5, 2021
DCDC22Mar 5, 2021
DCHS114Mar 5, 2021
DCPS7Mar 5, 2021
DCTN15Mar 5, 2021
DCX2Feb 21, 2021
DDB22Dec 6, 2021
DDC1Feb 21, 2021
DDHD22Mar 5, 2021
DDOST2Mar 5, 2021
DDR23Mar 5, 2021
DDX114Mar 5, 2021
DDX3X10Mar 5, 2021
DDX411Feb 10, 2021
DDX591Mar 5, 2021
DEAF17Feb 21, 2021
DELE12Feb 21, 2021
DENND5A4Mar 5, 2021
DEPDC511Mar 5, 2021
DES4Feb 21, 2021
DGAT13Feb 21, 2021
DGKE2Mar 5, 2021
DGUOK1Feb 21, 2021
DHCR243Feb 21, 2021
DHCR747Oct 7, 2022
DHDDS1Feb 21, 2021
DHTKD111Mar 5, 2021
DHX303Mar 5, 2021
DHX373Feb 21, 2021
DIAPH14Mar 5, 2021
DICER111Feb 11, 2022
DIPK1A4Feb 21, 2021
DIS3L217Feb 11, 2022
DKC11Oct 16, 2017
DLAT1Feb 21, 2021
DLD3Feb 21, 2021
DLEC11Mar 5, 2021
DLG31Feb 21, 2021
DLL11Feb 21, 2021
DLL32Mar 5, 2021
DMD22Oct 7, 2022
DMXL23Mar 5, 2021
DNA23Mar 5, 2021
DNAAF13Feb 21, 2021
DNAAF111Feb 21, 2021
DNAAF21Mar 5, 2021
DNAAF53Mar 5, 2021
DNAH113Mar 5, 2021
DNAH1113Mar 5, 2021
DNAH514Mar 5, 2021
DNAH91Feb 21, 2021
DNAI11Mar 5, 2021
DNAJB21Aug 17, 2015
DNAJB61Feb 21, 2021
DNAJC213Mar 5, 2021
DNAJC31Feb 21, 2021
DNAJC61Mar 5, 2021
DNM13Mar 5, 2021
DNM1L8Mar 5, 2021
DNM26Mar 5, 2021
DNMT12Mar 5, 2021
DNMT3A1Feb 21, 2021
DNMT3B2Mar 5, 2021
DOCK211Mar 5, 2021
DOCK33Feb 21, 2021
DOCK67Mar 5, 2021
DOCK77Mar 5, 2021
DOCK822Mar 5, 2021
DOCK8-AS12Feb 21, 2021
DOK716Oct 7, 2022
DOLK1Mar 5, 2021
DONSON3Mar 5, 2021
DPAGT12Mar 5, 2021
DPF21Feb 21, 2021
DPH14Mar 5, 2021
DPM12Feb 21, 2021
DPM21Feb 21, 2021
DPP62Mar 5, 2021
DPYD11Oct 7, 2022
DPYS2Feb 21, 2021
DRC11Mar 5, 2021
DSC21Mar 5, 2021
DSE7Feb 21, 2021
DSG21Mar 5, 2021
DSP9Mar 5, 2021
DSPP2Mar 5, 2021
DST7Mar 5, 2021
DSTYK2Mar 5, 2021
DTNA1Mar 5, 2021
DTNBP11Mar 5, 2021
DUOX21Feb 21, 2021
DUSP293Mar 5, 2021
DUSP62Mar 5, 2021
DVL11Feb 21, 2021
DVL31Mar 14, 2019
DYM1Mar 5, 2021
DYNC1H111Mar 5, 2021
DYNC1I21Feb 21, 2021
DYNC2H112Mar 5, 2021
DYNC2I21Feb 21, 2021
DYNC2LI11Feb 21, 2021
DYRK1A9Mar 5, 2021
DYRK1B1Feb 21, 2021
DYSF9Mar 5, 2021
DZIP1L1Feb 21, 2021
EARS27Mar 5, 2021
EBF37Mar 5, 2021
ECEL12Feb 21, 2021
ECHS16Mar 5, 2021
ECM11Feb 21, 2021
EDA1Feb 21, 2021
EDAR1Mar 5, 2021
EDARADD1Feb 21, 2021
EEF1A24Mar 5, 2021
EEF2KMT1Mar 5, 2021
EFCAB13-DT1Mar 5, 2021
EFEMP21Feb 21, 2021
EFHC13Mar 5, 2021
EFL13Mar 5, 2021
EFTUD25Feb 21, 2021
EGFR7Feb 10, 2021
EHMT110Mar 5, 2021
EIF2AK22Feb 21, 2020
EIF2AK33Feb 21, 2021
EIF2B22Feb 21, 2021
EIF2B32Mar 5, 2021
EIF2B43Mar 5, 2021
EIF2B56Oct 7, 2022
EIF2S31Mar 5, 2021
EIF3F2Feb 21, 2021
EIF4G11Feb 21, 2021
ELAC24Feb 21, 2021
ELANE3Mar 5, 2021
ELMO21Feb 21, 2021
ELN2Mar 5, 2021
ELOVL43Feb 21, 2021
ELP14Feb 11, 2022
ELP210Mar 5, 2021
ELP41Mar 5, 2021
EMC18Mar 5, 2021
EMC1-AS16Mar 5, 2021
EME21Feb 21, 2021
EML12Mar 5, 2021
ENAM1Mar 5, 2021
ENG2Mar 5, 2021
ENPP14Mar 5, 2021
ENTPD11Feb 21, 2021
ENTPD1-AS11Feb 21, 2021
ENTREP21Mar 5, 2021
EP30012Mar 5, 2021
EPB41L12Feb 21, 2021
EPG513Mar 5, 2021
EPHB12Mar 5, 2021
EPHX11Oct 16, 2017
EPHX21Feb 21, 2021
EPM2A1Feb 21, 2021
EPRS17Mar 5, 2021
EPS81Mar 5, 2021
EPS8L22Feb 21, 2021
ERAL11Mar 5, 2021
ERBB41Feb 21, 2021
ERCC223Feb 11, 2022
ERCC36Feb 11, 2022
ERCC422Dec 6, 2021
ERCC516Dec 6, 2021
ERCC610Mar 5, 2021
ERCC6-PGBD31Feb 21, 2021
ERCC6L23Mar 5, 2021
ERCC81Mar 5, 2021
ERF2Feb 21, 2021
ERLIN21Mar 5, 2021
ERMARD1Feb 21, 2021
ERMP11Feb 21, 2021
ESCO22Feb 21, 2021
ESPN1Feb 21, 2021
ESR11Mar 5, 2021
ESRRB3Feb 21, 2021
ETFA2Feb 21, 2021
ETFB2Feb 21, 2021
ETFDH2Feb 21, 2021
ETHE12Mar 5, 2021
ETV63Mar 5, 2021
EVC5Mar 5, 2021
EVC28Mar 5, 2021
EXOSC21Mar 5, 2021
EXOSC32Mar 5, 2021
EXOSC82Feb 21, 2021
EXPH51Feb 21, 2021
EXT14Dec 6, 2021
EXT27Dec 6, 2021
EXTL31Mar 5, 2021
EYS3Mar 5, 2021
EZH21Feb 10, 2021
F111Mar 5, 2021
F13B1Mar 5, 2021
F22Mar 5, 2021
F52Mar 5, 2021
F72Feb 21, 2021
F81Feb 21, 2021
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TEX151Feb 21, 2021
TFAP2A2Mar 5, 2021
TFAP2B2Feb 21, 2021
TFG2Mar 5, 2021
TFRC5Mar 5, 2021
TG8Mar 5, 2021
TGFB11Feb 21, 2021
TGFB23Mar 5, 2021
TGFB32Mar 5, 2021
TGFBR14Dec 6, 2021
TGFBR24Feb 21, 2021
TGM11Sep 27, 2019
TGM51Feb 21, 2021
TGM61Mar 5, 2021
TH8Mar 5, 2021
THBD1Feb 21, 2021
THOC24Mar 5, 2021
THOC610Mar 5, 2021
THPO1Feb 21, 2021
THRA1Oct 16, 2017
TIA11Feb 21, 2021
TIMM502Mar 5, 2021
TIMMDC17Mar 5, 2021
TINF23Dec 6, 2021
TJP25Mar 5, 2021
TK23Feb 21, 2021
TKT2Mar 5, 2021
TLK21Mar 14, 2019
TM4SF201Apr 1, 2019
TMC11Feb 21, 2021
TMCO61Mar 5, 2021
TMEM106B2Feb 21, 2021
TMEM126B3Mar 5, 2021
TMEM1272Feb 10, 2021
TMEM132E2Feb 21, 2021
TMEM1651Mar 5, 2021
TMEM2041Mar 5, 2021
TMEM2316Mar 5, 2021
TMEM2373Mar 5, 2021
TMEM2603Mar 5, 2021
TMEM38B1Feb 21, 2021
TMEM679Mar 5, 2021
TMEM701Feb 21, 2021
TMEM948Feb 21, 2021
TMIE1Mar 5, 2021
TMLHE1Oct 16, 2017
TMPPE1Mar 5, 2021
TMPRSS153Mar 5, 2021
TMPRSS31Feb 21, 2021
TMPRSS62Feb 21, 2021
TMTC32Mar 5, 2021
TMX21Feb 21, 2021
TMX2-CTNND12Feb 21, 2021
TNC4Mar 5, 2021
TNFAIP32Mar 5, 2021
TNFRSF11A4Mar 5, 2021
TNFRSF13B10Mar 5, 2021
TNIK3Mar 5, 2021
TNNC11Feb 21, 2021
TNNI22Feb 21, 2021
TNNI34Mar 5, 2021
TNNT12Feb 21, 2021
TNNT21Mar 5, 2021
TNNT34Mar 5, 2021
TNPO32Mar 5, 2021
TNRC6B2Jul 26, 2019
TNXB11Mar 5, 2021
TOE13Feb 21, 2021
TOP3A3Feb 21, 2021
TOR1A3Mar 5, 2021
TOR1AIP11Mar 5, 2021
TP539Dec 6, 2021
TP53BP11Feb 21, 2021
TP53RK3Mar 5, 2021
TPK13Feb 21, 2021
TPM15Mar 5, 2021
TPM21Feb 21, 2021
TPM32Feb 21, 2021
TPO4Feb 21, 2021
TPP19Mar 5, 2021
TRAF3IP11Feb 21, 2021
TRAF3IP21Mar 5, 2021
TRAF3IP2-AS11Mar 5, 2021
TRAF72Feb 21, 2021
TRAIP1Mar 5, 2021
TRAK12Feb 21, 2021
TRAPPC116Mar 5, 2021
TRAPPC124Mar 5, 2021
TRAPPC141Feb 21, 2021
TRAPPC2L1Feb 21, 2021
TRAPPC919Mar 5, 2021
TRDN2Mar 5, 2021
TREX18Mar 5, 2021
TRIM21Feb 21, 2021
TRIM324Mar 5, 2021
TRIO17Mar 5, 2021
TRIOBP6Mar 5, 2021
TRIP113Mar 5, 2021
TRIP127Mar 5, 2021
TRIP131Mar 5, 2021
TRIP41Feb 21, 2021
TRIT12Mar 5, 2021
TRMT15Feb 21, 2021
TRMT10A2Feb 21, 2021
TRMT52Mar 5, 2021
TRMU3Feb 21, 2021
TRNT12Feb 21, 2021
TRPA11Mar 5, 2021
TRPC64Mar 5, 2021
TRPM63Mar 5, 2021
TRPM71Feb 21, 2021
TRPS12Feb 21, 2021
TRPV41Feb 21, 2021
TRPV62Feb 21, 2021
TRRAP6Feb 21, 2021
TSC111Dec 6, 2021
TSC223Dec 6, 2021
TSEN23Mar 5, 2021
TSEN5411Mar 5, 2021
TSFM1Mar 5, 2021
TSHR1Feb 21, 2021
TSPAN18Mar 5, 2021
TSPAN121Feb 21, 2021
TSPEAR5Mar 5, 2021
TSPEAR-AS11Feb 21, 2021
TSPYL11Feb 21, 2021
TTBK21Feb 21, 2021
TTC194Mar 5, 2021
TTC21B7Mar 5, 2021
TTC21B-AS12Feb 21, 2021
TTC7A6Mar 5, 2021
TTI25Mar 5, 2021
TTN123Mar 5, 2021
TTN-AS161Mar 5, 2021
TTPA1Sep 27, 2019
TTR1Feb 21, 2021
TUBA1A8Mar 5, 2021
TUBA84Mar 5, 2021
TUBB2Mar 5, 2021
TUBB12Mar 5, 2021
TUBB2A3Feb 21, 2021
TUBB2B2Feb 21, 2021
TUBB34Mar 5, 2021
TUBB4A5Mar 5, 2021
TUBGCP42Feb 21, 2021
TUBGCP611Mar 5, 2021
TUFM3Mar 5, 2021
TULP11Mar 5, 2021
TUSC31Mar 5, 2021
TWIST12Mar 5, 2021
TWIST21Mar 5, 2021
TWNK5Mar 5, 2021
TXN21Feb 21, 2021
TXNL4A1Feb 21, 2021
TYK26Mar 5, 2021
TYMP5Feb 21, 2021
TYR6Feb 21, 2021
UBA11Mar 5, 2021
UBA52Feb 21, 2021
UBE2A1Apr 1, 2019
UBE3A122Mar 5, 2021
UBE3B5Mar 5, 2021
UBN21Mar 14, 2019
UBR13Feb 21, 2021
UBTF1Feb 21, 2021
UCP31Feb 21, 2021
UFC12Mar 5, 2021
UFM11Feb 21, 2021
UGT1A1Oct 7, 2022
UGT1A11Oct 7, 2022
UGT1A101Oct 7, 2022
UGT1A31Oct 7, 2022
UGT1A41Oct 7, 2022
UGT1A51Oct 7, 2022
UGT1A61Oct 7, 2022
UGT1A71Oct 7, 2022
UGT1A81Oct 7, 2022
UGT1A91Oct 7, 2022
UNC13D9Mar 5, 2021
UNC45B1Mar 5, 2021
UNC8032Mar 5, 2021
UNG3Mar 5, 2021
UPB14Mar 5, 2021
UPF3B1Feb 21, 2021
UQCC21Mar 5, 2021
UQCRC23Mar 5, 2021
UQCRQ2Mar 5, 2021
UROC11Mar 5, 2021
USB13Mar 5, 2021
USH1C8Oct 7, 2022
USH2A28Oct 7, 2022
USH2A-AS11Mar 5, 2021
USP27X2Feb 21, 2021
USP9X12Mar 5, 2021
UTP14C1Feb 21, 2021
VAC142Mar 5, 2021
VARS120Mar 5, 2021
VARS214Mar 5, 2021
VCL2Mar 5, 2021
VCP2Mar 5, 2021
VHL3Dec 6, 2021
VIPAS393Feb 21, 2021
VLDLR6Mar 5, 2021
VMA211Mar 5, 2021
VPS117Mar 5, 2021
VPS13A7Mar 5, 2021
VPS13B27Mar 5, 2021
VPS13C3Feb 21, 2021
VPS13D9Feb 21, 2021
VPS33A2Feb 21, 2021
VPS33B3Feb 21, 2021
VPS37A1Feb 21, 2021
VPS453Feb 21, 2021
VPS535Mar 5, 2021
VRK14Oct 7, 2022
VRK22Mar 5, 2021
VSX21Feb 21, 2021
VWA3B2Mar 5, 2021
VWF6Mar 5, 2021
WAC2Mar 5, 2021
WAPL1Apr 8, 2018
WARS25Mar 5, 2021
WAS2Feb 21, 2021
WASHC45Mar 5, 2021
WASHC54Feb 21, 2021
WASHC5-AS12Feb 21, 2021
WBP21Feb 21, 2021
WDFY37Mar 5, 2021
WDPCP1Oct 16, 2017
WDR193Apr 1, 2019
WDR263Mar 5, 2021
WDR355Mar 5, 2021
WDR371Feb 21, 2021
WDR42Feb 21, 2021
WDR458Feb 21, 2021
WDR6212Mar 5, 2021
WDR733Mar 5, 2021
WDR8114Mar 5, 2021
WFS16Feb 21, 2021
WHRN2Mar 5, 2021
WIPF11Mar 5, 2021
WIPI21Feb 21, 2021
WNK18Mar 5, 2021
WNT10B1Feb 21, 2021
WNT5A2Mar 5, 2021
WRAP531Dec 6, 2021
WRN16Dec 6, 2021
WT15Mar 5, 2021
WWOX15Mar 5, 2021
XDH1Feb 21, 2021
XIAP1Feb 21, 2021
XPA2Dec 6, 2021
XPC12Feb 11, 2022
XRCC11Mar 5, 2021
XRCC22Feb 21, 2021
XYLT11Mar 5, 2021
XYLT21Feb 21, 2021
YAP11Mar 5, 2021
YARS12Feb 21, 2021
YARS28Mar 5, 2021
YME1L11Feb 21, 2021
YWHAG2Feb 21, 2021
YY14Mar 5, 2021
YY1AP12Mar 5, 2021
ZAP703Mar 5, 2021
ZBTB113Feb 21, 2021
ZBTB184Mar 5, 2021
ZBTB204Feb 21, 2021
ZBTB243Mar 5, 2021
ZBTB421Mar 5, 2021
ZC3H145Mar 5, 2021
ZCCHC81Feb 21, 2021
ZDHHC151Mar 5, 2021
ZDHHC2410Oct 7, 2022
ZDHHC91Feb 21, 2021
ZEB11Mar 5, 2021
ZEB219Mar 5, 2021
ZFPM22Feb 21, 2021
ZFPM2-AS12Feb 21, 2021
ZFYVE2614Mar 5, 2021
ZIC31Mar 5, 2021
ZMIZ11Feb 21, 2021
ZMPSTE241Feb 21, 2021
ZMYND114Mar 5, 2021
ZNF1427Feb 21, 2021
ZNF1482Mar 5, 2021
ZNF181Feb 21, 2021
ZNF2767Mar 5, 2021
ZNF3354Feb 21, 2021
ZNF3412Feb 21, 2021
ZNF4233Feb 21, 2021
ZNF4622Feb 21, 2021
ZNF46913Mar 5, 2021
ZNF6272Mar 5, 2021
ZNF6441Mar 5, 2021
ZNF7113Feb 21, 2021
ZNHIT31Mar 5, 2021
ZSWIM63Mar 5, 2021

Condition

NameSubmissionsLast Updated
11p partial monosomy syndrome1Apr 1, 2019
11q partial monosomy syndrome2Apr 1, 2019
15q11q13 microduplication syndrome8Apr 1, 2019
2-aminoadipic 2-oxoadipic aciduria8Mar 5, 2021
2-hydroxyglutaric aciduria5Mar 5, 2021
3 beta-Hydroxysteroid dehydrogenase deficiency1Feb 21, 2021
3-Methylglutaconic aciduria type 21Feb 21, 2021
3-Methylglutaconic aciduria type 32Mar 5, 2021
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Apr 1, 2019
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Mar 5, 2021
3-methylcrotonyl-CoA carboxylase 1 deficiency8Mar 5, 2021
3-methylcrotonyl-CoA carboxylase 2 deficiency4Mar 5, 2021
3-methylglutaconic aciduria type 11Mar 5, 2021
3-methylglutaconic aciduria type 81Feb 21, 2021
3-methylglutaconic aciduria type 92Mar 5, 2021
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia10Mar 5, 2021
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome6Mar 5, 2021
3M syndrome 17Mar 5, 2021
3M syndrome 25Mar 5, 2021
3M syndrome 33Mar 5, 2021
3MC syndrome 12Feb 21, 2021
3MC syndrome 21Feb 21, 2021
46,XX sex reversal 41Mar 5, 2021
46,XY sex reversal 61Mar 5, 2021
4p partial monosomy syndrome4Feb 21, 2021
5-Oxoprolinase deficiency2Mar 5, 2021
5p partial monosomy syndrome2Apr 1, 2019
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency6Mar 5, 2021
8q24.3 microdeletion syndrome6Mar 5, 2021
ACTB-related BAFopathy9Jul 1, 2021
ACTH-independent macronodular adrenal hyperplasia 22Mar 5, 2021
ACTL6A-related BAFopathy3Jul 1, 2021
ACTL6B-related BAFopathy4Jul 1, 2021
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder6Mar 5, 2021
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome13Mar 5, 2021
AICA-ribosiduria1Feb 21, 2021
ALDH18A1-related de Barsy syndrome1Feb 21, 2021
ALG1-congenital disorder of glycosylation3Mar 5, 2021
ALG11-congenital disorder of glycosylation3Mar 5, 2021
ALG12-congenital disorder of glycosylation4Mar 5, 2021
ALG2-congenital disorder of glycosylation3Mar 5, 2021
ALG3-congenital disorder of glycosylation4Mar 5, 2021
ALG6-congenital disorder of glycosylation 1C5Feb 21, 2021
ALG8 congenital disorder of glycosylation6Mar 5, 2021
ALG9 congenital disorder of glycosylation3Mar 5, 2021
ANE syndrome1Feb 21, 2021
ARID1A-related BAFopathy10Jul 1, 2021
ARID1B-related BAFopathy47Jul 1, 2021
ARID2-related BAFopathy8Jul 1, 2021
Aarskog syndrome2Mar 5, 2021
Abdominal obesity-metabolic syndrome 31Feb 21, 2021
Abetalipoproteinaemia4Feb 21, 2021
Abnormal heart morphology1Oct 16, 2017
Abnormal skeletal morphology2Jan 10, 2017
Abnormality of vision3Nov 15, 2017
Abortive cerebellar ataxia1Feb 10, 2021
Acetyl-CoA: carboxylase deficiency1Feb 21, 2021
Achondrogenesis type II1Feb 21, 2021
Achondrogenesis, type IA3Mar 5, 2021
Achondrogenesis, type IB1Feb 21, 2021
Achondroplasia7Mar 5, 2021
Achromatopsia 23Feb 21, 2021
Achromatopsia 31Feb 10, 2021
Achromatopsia 71Mar 5, 2021
Acquired hemoglobin H disease1Feb 21, 2021
Acquired polycythemia vera1Feb 21, 2021
Acral peeling skin syndrome1Feb 21, 2021
Acrocallosal syndrome2Mar 5, 2021
Acrocapitofemoral dysplasia1Feb 21, 2021
Acrocephalosyndactyly type I1Nov 23, 2018
Acrofacial dysostosis Cincinnati type1Feb 21, 2021
Acromelic frontonasal dysostosis3Mar 5, 2021
Acromesomelic dysplasia 1, Maroteaux type2Mar 5, 2021
Acromesomelic dysplasia 31Mar 5, 2021
Acromicric dysplasia1Feb 21, 2021
Actin accumulation myopathy9Mar 5, 2021
Action myoclonus-renal failure syndrome2Mar 5, 2021
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3Feb 21, 2021
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome3Mar 5, 2021
Acute intermittent porphyria3Feb 21, 2021
Acute lymphoid leukemia1Feb 21, 2021
Acute myeloid leukemia11Mar 5, 2021
Acute rhabdomyolysis4Sep 3, 2015
Acyl-CoA dehydrogenase 9 deficiency9Mar 5, 2021
Acyl-CoA oxidase deficiency3Mar 5, 2021
Adams-Oliver syndrome 13Feb 21, 2021
Adams-Oliver syndrome 27Mar 5, 2021
Adams-Oliver syndrome 55Mar 5, 2021
Adenosine kinase deficiency1Feb 21, 2021
Adenylosuccinate lyase deficiency8Mar 5, 2021
Adrenoleukodystrophy6Feb 21, 2021
Adult polyglucosan body disease1Feb 21, 2021
Adult-onset autosomal dominant demyelinating leukodystrophy1Mar 5, 2021
Agammaglobulinemia 2, autosomal recessive1Mar 5, 2021
Agammaglobulinemia 3, autosomal recessive3Mar 5, 2021
Agammaglobulinemia 4, autosomal recessive2Mar 5, 2021
Agammaglobulinemia 5, autosomal dominant1Feb 21, 2021
Agenesis of the corpus callosum with peripheral neuropathy6Oct 7, 2022
Aicardi-Goutieres syndrome 18Mar 5, 2021
Aicardi-Goutieres syndrome 34Mar 5, 2021
Aicardi-Goutieres syndrome 42Mar 5, 2021
Aicardi-Goutieres syndrome 52Feb 21, 2021
Aicardi-Goutieres syndrome 65Mar 5, 2021
Aicardi-Goutieres syndrome 74Mar 5, 2021
Al Kaissi syndrome8Mar 5, 2021
Al-Raqad syndrome7Mar 5, 2021
Alagille syndrome due to a JAG1 point mutation7Mar 5, 2021
Alagille syndrome due to a NOTCH2 point mutation5Mar 5, 2021
Alazami-Yuan syndrome4Mar 5, 2021
Aldosterone-producing adenoma with seizures and neurological abnormalities3Mar 5, 2021
Alexander disease4Mar 5, 2021
Alkaline ceramidase 3 deficiency1Feb 21, 2021
Alkuraya-Kucinskas syndrome10Mar 5, 2021
Allan-Herndon-Dudley syndrome3Mar 5, 2021
Alopecia-intellectual disability syndrome 12Mar 5, 2021
Alpha thalassemia-X-linked intellectual disability syndrome8Mar 5, 2021
Alpha-1-antitrypsin deficiency2Nov 14, 2016
Alpha-N-acetylgalactosaminidase deficiency type 21Mar 5, 2021
Alpha-methylacyl-CoA racemase deficiency1Feb 21, 2021
Alstrom syndrome13Mar 5, 2021
Alternating hemiplegia of childhood 11Feb 21, 2021
Alternating hemiplegia of childhood 24Feb 21, 2021
Alveolar capillary dysplasia with pulmonary venous misalignment2Mar 5, 2021
Alveolar rhabdomyosarcoma1Feb 10, 2021
Alzheimer disease2Feb 21, 2021
Amelocerebrohypohidrotic syndrome2Mar 5, 2021
Amelogenesis imperfecta - hypoplastic autosomal dominant - local1Mar 5, 2021
Amelogenesis imperfecta type 1A3Mar 5, 2021
Aminoacylase 1 deficiency6Mar 5, 2021
Amish lethal microcephaly2Mar 5, 2021
Amyloidogenic transthyretin amyloidosis1Feb 21, 2021
Amyotrophic lateral sclerosis type 11Feb 21, 2021
Amyotrophic lateral sclerosis type 101Mar 5, 2021
Amyotrophic lateral sclerosis type 161Aug 17, 2015
Amyotrophic lateral sclerosis type 191Feb 21, 2021
Amyotrophic lateral sclerosis type 43Mar 5, 2021
Amyotrophic lateral sclerosis type 512Mar 5, 2021
Amyotrophic lateral sclerosis-parkinsonism-dementia complex1Feb 21, 2021
Anauxetic dysplasia 21Feb 21, 2021
Andersen Tawil syndrome1Mar 14, 2019
Androgen resistance syndrome1Feb 21, 2021
Anemia, congenital dyserythropoietic, type 1a4Mar 5, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Feb 21, 2021
Angelman syndrome128Mar 5, 2021
Angiokeratoma corporis diffusum2Feb 21, 2021
Aniridia 21Mar 5, 2021
Anterior segment dysgenesis 62Mar 5, 2021
Anterior segment dysgenesis 82Feb 21, 2021
Anxiety1Feb 21, 2021
Aortic aneurysm, familial thoracic 46Mar 5, 2021
Aortic aneurysm, familial thoracic 73Feb 21, 2021
Aortic aneurysm, familial thoracic 91Mar 5, 2021
Aortic valve disease 110Mar 5, 2021
Aortic valve disease 25Mar 5, 2021
Aplastic anemia14Dec 6, 2021
Apparent mineralocorticoid excess1Feb 21, 2021
Arginase deficiency4Feb 21, 2021
Arginine:glycine amidinotransferase deficiency1Feb 21, 2021
Argininosuccinate lyase deficiency7Feb 21, 2021
Arrhinia with choanal atresia and microphthalmia syndrome1Feb 21, 2021
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma3Mar 5, 2021
Arrhythmogenic right ventricular dysplasia 12Mar 5, 2021
Arrhythmogenic right ventricular dysplasia 111Mar 5, 2021
Arrhythmogenic right ventricular dysplasia 121Feb 21, 2021
Arrhythmogenic right ventricular dysplasia 27Mar 5, 2021
Arrhythmogenic right ventricular dysplasia 84Mar 5, 2021
Arrhythmogenic right ventricular dysplasia 91Oct 16, 2017
Arterial calcification, generalized, of infancy, 14Mar 5, 2021
Arterial calcification, generalized, of infancy, 23Mar 5, 2021
Arterial tortuosity syndrome2Feb 21, 2021
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect2Mar 5, 2021
Arthrogryposis multiplex congenita 3, myogenic type4Feb 21, 2021
Arthrogryposis, Perthes disease, and upward gaze palsy3Mar 5, 2021
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development1Apr 16, 2021
Arthrogryposis, distal, type 1A1Oct 16, 2017
Arthrogryposis, distal, type 2B22Feb 21, 2021
Arthrogryposis, distal, with impaired proprioception and touch1Feb 21, 2021
Arthrogryposis, renal dysfunction, and cholestasis 13Feb 21, 2021
Arthrogryposis, renal dysfunction, and cholestasis 23Feb 21, 2021
Arts syndrome2Mar 5, 2021
Aspartylglucosaminuria1Feb 21, 2021
Asphyxiating thoracic dystrophy 312Mar 5, 2021
Asphyxiating thoracic dystrophy 42Feb 21, 2021
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome26Mar 5, 2021
Ataxia - oculomotor apraxia type 46Mar 5, 2021
Ataxia with oculomotor apraxia type 34Mar 5, 2021
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2Mar 5, 2021
Ataxia-telangiectasia syndrome39Sep 14, 2022
Ataxia-telangiectasia-like disorder 112Dec 6, 2021
Ataxia-telangiectasia-like disorder 21Mar 5, 2021
Ateleiotic dwarfism2Mar 5, 2021
Atelosteogenesis type I5Mar 5, 2021
Atelosteogenesis type II3Sep 27, 2019
Atrial fibrillation, familial, 103Feb 21, 2021
Atrial fibrillation, familial, 111Apr 1, 2019
Atrial fibrillation, familial, 122Feb 21, 2021
Atrial fibrillation, familial, 141Mar 5, 2021
Atrial fibrillation, familial, 151Mar 5, 2021
Atrial fibrillation, familial, 31Feb 21, 2021
Atrial fibrillation, familial, 91Mar 14, 2019
Atrial septal defect 21Feb 21, 2021
Atrial septal defect 37Mar 5, 2021
Atrial septal defect 51Mar 5, 2021
Atrial septal defect 81Mar 5, 2021
Atrioventricular septal defect 31Mar 5, 2021
Atypical glycine encephalopathy3Mar 5, 2021
Atypical hemolytic-uremic syndrome with C3 anomaly1Feb 21, 2021
Atypical hemolytic-uremic syndrome with I factor anomaly2Feb 21, 2021
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Feb 21, 2021
Auditory neuropathy-optic atrophy syndrome2Mar 14, 2019
Auriculocondylar syndrome 21Feb 21, 2021
Autism5Nov 15, 2017
Autism spectrum disorder1Mar 14, 2019
Autism spectrum disorder - epilepsy - arthrogryposis syndrome1Oct 7, 2022
Autism spectrum disorder due to AUTS2 deficiency4Mar 5, 2021
Autism, susceptibility to, 171Mar 5, 2021
Autism, susceptibility to, 1810Mar 5, 2021
Autism, susceptibility to, X-linked 11Feb 21, 2021
Autism, susceptibility to, X-linked 23Feb 21, 2021
Autistic behavior3Dec 14, 2020
Autoimmune disease, multisystem, infantile-onset, 22Mar 5, 2021
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2Mar 5, 2021
Autoimmune interstitial lung disease-arthritis syndrome3Mar 5, 2021
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency2Feb 21, 2021
Autoimmune lymphoproliferative syndrome type 11Feb 21, 2021
Autoimmune lymphoproliferative syndrome type 2A3Mar 5, 2021
Autoimmune lymphoproliferative syndrome type 2B5Mar 5, 2021
Autoimmune lymphoproliferative syndrome type 43Feb 21, 2021
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1Mar 5, 2021
Autoimmune thyroid disease, susceptibility to, 31Feb 21, 2021
Autoinflammation with arthritis and dyskeratosis1Mar 5, 2021
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation6Mar 5, 2021
Autoinflammatory syndrome, familial, Behcet-like2Mar 5, 2021
Autosomal dominant Alport syndrome4Mar 5, 2021
Autosomal dominant Parkinson disease 82Feb 21, 2021
Autosomal dominant Robinow syndrome 12Mar 5, 2021
Autosomal dominant Robinow syndrome 21Feb 21, 2021
Autosomal dominant Robinow syndrome 31Mar 14, 2019
Autosomal dominant centronuclear myopathy7Mar 5, 2021
Autosomal dominant cerebellar ataxia, deafness and narcolepsy2Mar 5, 2021
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures3Mar 5, 2021
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2Feb 21, 2021
Autosomal dominant deafness - onychodystrophy syndrome1Feb 21, 2021
Autosomal dominant distal renal tubular acidosis1Feb 21, 2021
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2Mar 5, 2021
Autosomal dominant hypocalcemia 11Oct 16, 2017
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome13Mar 5, 2021
Autosomal dominant isolated somatotropin deficiency1Feb 21, 2021
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Feb 21, 2021
Autosomal dominant limb-girdle muscular dystrophy type 1F2Mar 5, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 17Mar 5, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 32Mar 5, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 41Feb 21, 2021
Autosomal dominant nocturnal frontal lobe epilepsy 58Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 12Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 117Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 126Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 131Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 151Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 171Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 201Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 231Oct 16, 2017
Autosomal dominant nonsyndromic hearing loss 2A1Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 2B1Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 411Feb 21, 2021
Autosomal dominant nonsyndromic hearing loss 441Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 4A3Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 4B2Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 51Feb 21, 2021
Autosomal dominant nonsyndromic hearing loss 564Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 62Feb 21, 2021
Autosomal dominant nonsyndromic hearing loss 651Mar 14, 2019
Autosomal dominant nonsyndromic hearing loss 681Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 703Mar 5, 2021
Autosomal dominant nonsyndromic hearing loss 91Feb 21, 2021
Autosomal dominant optic atrophy classic form2Feb 21, 2021
Autosomal dominant osteopetrosis 21Feb 21, 2021
Autosomal dominant pseudohypoaldosteronism type 11Feb 21, 2021
Autosomal dominant sensory ataxia 11Feb 21, 2021
Autosomal dominant slowed nerve conduction velocity4Mar 5, 2021
Autosomal recessive Alport syndrome9Mar 5, 2021
Autosomal recessive DOPA responsive dystonia8Mar 5, 2021
Autosomal recessive Parkinson disease 141Aug 17, 2015
Autosomal recessive ataxia due to ubiquinone deficiency7Mar 5, 2021
Autosomal recessive ataxia, Beauce type7Mar 5, 2021
Autosomal recessive bestrophinopathy1Feb 21, 2021
Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency1Feb 21, 2021
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome9Feb 21, 2021
Autosomal recessive complex spastic paraplegia type 9B1Feb 21, 2021
Autosomal recessive congenital ichthyosis 11Sep 27, 2019
Autosomal recessive congenital ichthyosis 26Mar 5, 2021
Autosomal recessive congenital ichthyosis 31Feb 21, 2021
Autosomal recessive congenital ichthyosis 54Mar 5, 2021
Autosomal recessive congenital ichthyosis 62Mar 5, 2021
Autosomal recessive cutis laxa type 2B3Feb 21, 2021
Autosomal recessive distal spinal muscular atrophy 13Feb 21, 2021
Autosomal recessive early-onset Parkinson disease 233Feb 21, 2021
Autosomal recessive early-onset Parkinson disease 64Feb 21, 2021
Autosomal recessive hypophosphatemic bone disease1Feb 21, 2021
Autosomal recessive juvenile Parkinson disease 24Mar 5, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2A14Mar 5, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B1Feb 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2C1Feb 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2D2Feb 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2E1Sep 27, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2I1Feb 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2J28Feb 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2Q5Mar 5, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2T1Feb 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2W1Feb 21, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2Y1Mar 5, 2021
Autosomal recessive limb-girdle muscular dystrophy type R186Mar 5, 2021
Autosomal recessive multiple pterygium syndrome3Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 1021Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 1213Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 151Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 164Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 18A2Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 18B14Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 1A23Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 1B16Sep 27, 2019
Autosomal recessive nonsyndromic hearing loss 24Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 222Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 232Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 251Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 286Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 311Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 301Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 312Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 322Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 353Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 361Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 45Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 421Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 441Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 61Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 611Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 661Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 71Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 704Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 777Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 81Feb 21, 2021
Autosomal recessive nonsyndromic hearing loss 84B7Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 861Mar 14, 2019
Autosomal recessive nonsyndromic hearing loss 96Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 911Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 972Mar 5, 2021
Autosomal recessive nonsyndromic hearing loss 983Mar 5, 2021
Autosomal recessive osteopetrosis 14Feb 21, 2021
Autosomal recessive osteopetrosis 71Feb 21, 2021
Autosomal recessive polycystic kidney disease74Sep 27, 2019
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity2Mar 5, 2021
Autosomal recessive proximal renal tubular acidosis1Feb 21, 2021
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency4Mar 5, 2021
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency3Feb 21, 2021
Autosomal recessive spastic paraplegia type 761Feb 21, 2021
Autosomal recessive spastic paraplegia type 784Mar 5, 2021
Autosomal recessive spinocerebellar ataxia 103Mar 5, 2021
Autosomal recessive spinocerebellar ataxia 111Mar 5, 2021
Autosomal recessive spinocerebellar ataxia 124Mar 14, 2019
Autosomal recessive spinocerebellar ataxia 131Feb 21, 2021
Autosomal recessive spinocerebellar ataxia 142Mar 5, 2021
Autosomal recessive spinocerebellar ataxia 152Feb 21, 2021
Autosomal recessive spinocerebellar ataxia 161Feb 21, 2021
Autosomal recessive spinocerebellar ataxia 182Mar 5, 2021
Autosomal recessive spinocerebellar ataxia 25Mar 5, 2021
Autosomal recessive spinocerebellar ataxia 209Dec 6, 2021
Avascular necrosis of femoral head, primary, 11Feb 21, 2021
Ayme-Gripp syndrome1Feb 21, 2021
B4GALT1-congenital disorder of glycosylation2Mar 5, 2021
BAP1-related tumor predisposition syndrome4Dec 6, 2021
BCL11A-related BAFopathy3Jul 1, 2021
BCL11B-related BAFopathy6Jul 1, 2021
BENTA disease7Mar 5, 2021
BNAR syndrome3Feb 21, 2021
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201Feb 21, 2021
Baller-Gerold syndrome4Feb 21, 2021
Bamforth-Lazarus syndrome3Mar 5, 2021
Band heterotopia of brain2Mar 5, 2021
Baraitser-Winter syndrome 12Feb 21, 2021
Baraitser-winter syndrome 23Feb 21, 2021
Barber-Say syndrome1Mar 5, 2021
Bardet-Biedl syndrome 114Oct 7, 2022
Bardet-Biedl syndrome 105Mar 5, 2021
Bardet-Biedl syndrome 112Mar 5, 2021
Bardet-Biedl syndrome 123Mar 5, 2021
Bardet-Biedl syndrome 132Feb 21, 2021
Bardet-Biedl syndrome 145Mar 5, 2021
Bardet-Biedl syndrome 163Feb 21, 2021
Bardet-Biedl syndrome 21Feb 21, 2021
Bardet-Biedl syndrome 221Feb 21, 2021
Bardet-Biedl syndrome 31Feb 21, 2021
Bardet-Biedl syndrome 42Feb 21, 2021
Bardet-Biedl syndrome 52Mar 5, 2021
Bardet-Biedl syndrome 62Feb 21, 2021
Bardet-Biedl syndrome 74Mar 5, 2021
Bardet-Biedl syndrome 91Feb 21, 2021
Bartsocas-Papas syndrome3Mar 5, 2021
Bartter disease type 13Mar 5, 2021
Bartter disease type 4a1Feb 21, 2021
Basal cell carcinoma, susceptibility to, 11Feb 10, 2021
Basal ganglia calcification, idiopathic, 51Feb 21, 2021
Basal laminar drusen2Mar 5, 2021
Beaded hair1Oct 16, 2017
Beck-Fahrner syndrome1Feb 21, 2021
Becker muscular dystrophy6Feb 21, 2021
Beckwith-Wiedemann syndrome1Feb 10, 2021
Behavioral abnormality3Mar 19, 2021
Benign familial hematuria1Mar 5, 2021
Benign hereditary chorea1Mar 14, 2019
Benign recurrent intrahepatic cholestasis type 14Mar 5, 2021
Benign recurrent intrahepatic cholestasis type 22Mar 5, 2021
Bernard Soulier syndrome2Mar 5, 2021
Beta-D-mannosidosis4Mar 5, 2021
Beta-hydroxyisobutyryl-CoA deacylase deficiency5Mar 5, 2021
Beta-thalassemia HBB/LCRB2Oct 7, 2022
Beta-thalassemia-X-linked thrombocytopenia syndrome1Feb 21, 2021
Bethlem myopathy 18Feb 21, 2021
Bethlem myopathy 25Mar 5, 2021
Bifunctional peroxisomal enzyme deficiency5Feb 21, 2021
Bilateral frontoparietal polymicrogyria2Feb 21, 2021
Bilateral microtia-deafness-cleft palate syndrome1Mar 5, 2021
Bilateral parasagittal parieto-occipital polymicrogyria2Feb 21, 2021
Bilateral sensorineural hearing impairment1Nov 14, 2016
Bile acid malabsorption, primary3Feb 21, 2021
Biotin-responsive basal ganglia disease3Feb 21, 2021
Biotinidase deficiency1Feb 21, 2021
Birk-Barel syndrome2Mar 5, 2021
Blau syndrome2Mar 5, 2021
Blepharocheilodontic syndrome 13Mar 5, 2021
Blepharocheilodontic syndrome 21Feb 21, 2021
Blepharophimosis - intellectual disability syndrome, MKB type1Feb 21, 2021
Blepharophimosis - intellectual disability syndrome, SBBYS type2Feb 21, 2021
Bloom syndrome18Dec 6, 2021
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency1Mar 5, 2021
Bohring-Opitz syndrome9Mar 5, 2021
Bone fragility with contractures, arterial rupture, and deafness1Mar 5, 2021
Bone marrow failure syndrome 33Mar 5, 2021
Bone marrow failure syndrome 41Feb 21, 2021
Bone marrow failure syndrome 51Feb 10, 2021
Bone mineral density quantitative trait locus 182Apr 1, 2019
Borjeson-Forssman-Lehmann syndrome2Mar 5, 2021
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 14, 2019
Brachycephaly, trichomegaly, and developmental delay1Feb 21, 2021
Brachydactyly type A21Mar 5, 2021
Brachydactyly type B11Feb 21, 2021
Brachydactyly type D1Mar 14, 2019
Brachydactyly type E11Mar 14, 2019
Brachydactyly-syndactyly syndrome1Mar 5, 2021
Brachyolmia-amelogenesis imperfecta syndrome3Mar 5, 2021
Brachyrachia (short spine dysplasia)1Feb 21, 2021
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Feb 21, 2021
Brain imaging abnormality12Jul 17, 2021
Brain small vessel disease 1 with or without ocular anomalies10Feb 21, 2021
Brain-lung-thyroid syndrome3Feb 21, 2021
Branched-chain keto acid dehydrogenase kinase deficiency3Mar 5, 2021
Branchiooculofacial syndrome2Mar 5, 2021
Branchiootic syndrome 31Feb 21, 2021
Breast-ovarian cancer, familial, susceptibility to, 19Feb 11, 2022
Breast-ovarian cancer, familial, susceptibility to, 218Dec 6, 2021
Breast-ovarian cancer, familial, susceptibility to, 31Oct 7, 2022
Breast-ovarian cancer, familial, susceptibility to, 41Feb 10, 2021
Brittle cornea syndrome 113Mar 5, 2021
Brody myopathy3Mar 5, 2021
Bronchiectasis with or without elevated sweat chloride 33Mar 5, 2021
Brooke-Spiegler syndrome1Dec 6, 2021
Brown-Vialetto-van Laere syndrome 24Feb 21, 2021
Bruck syndrome 13Feb 21, 2021
Brugada syndrome 12Mar 5, 2021
Brugada syndrome 32Feb 21, 2021
Brugada syndrome 41Feb 21, 2021
Brugada syndrome 51Feb 21, 2021
Brunner syndrome1Mar 5, 2021
Bullous ichthyosiform erythroderma1Feb 21, 2021
C syndrome3Feb 21, 2021
C1Q deficiency1Feb 21, 2021
CARASIL syndrome1Feb 21, 2021
CBL-related disorder3Feb 21, 2021
CCDC115-CDG1Mar 5, 2021
CEBALID syndrome1Feb 21, 2021
CEDNIK syndrome1Feb 21, 2021
CFHR5 deficiency2Feb 21, 2021
CHARGE association16Mar 5, 2021
CHIME syndrome2Mar 5, 2021
COACH syndrome 117Mar 5, 2021
CODAS syndrome6Mar 5, 2021
COG1 congenital disorder of glycosylation7Mar 5, 2021
COG4-congenital disorder of glycosylation1Feb 21, 2021
COG5-congenital disorder of glycosylation4Mar 5, 2021
COG6-ongenital disorder of glycosylation6Mar 5, 2021
COG7 congenital disorder of glycosylation10Mar 5, 2021
COG8-congenital disorder of glycosylation3Mar 5, 2021
Café-au-lait macules with pulmonary stenosis2Mar 5, 2021
Calcium oxalate nephrolithiasis2Feb 21, 2021
Camptodactyly-tall stature-scoliosis-hearing loss syndrome1Mar 14, 2019
Camptomelic dysplasia2Feb 21, 2021
Candidiasis, familial, 81Mar 5, 2021
Capillary malformation-arteriovenous malformation 13Mar 5, 2021
Carcinoma of pancreas3Feb 10, 2021
Cardiac anomalies - developmental delay - facial dysmorphism syndrome10Mar 5, 2021
Cardiac arrhythmia4Sep 3, 2015
Cardiac arrhythmia, ankyrin-B-related5Mar 5, 2021
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2Mar 5, 2021
Cardiac valvular defect, developmental6Mar 5, 2021
Cardiac valvular dysplasia, X-linked4Mar 5, 2021
Cardiac, facial, and digital anomalies with developmental delay2Feb 21, 2021
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 13Mar 5, 2021
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 22Mar 5, 2021
Cardiofaciocutaneous syndrome 13Mar 5, 2021
Cardiofaciocutaneous syndrome 22Mar 14, 2019
Cardiofaciocutaneous syndrome 32Oct 16, 2017
Cardiofaciocutaneous syndrome 43Mar 5, 2021
Cardiomyopathy7Jun 19, 2015
Cardiomyopathy, dilated, 2c1Feb 21, 2021
Cardiomyopathy, familial hypertrophic 274Feb 21, 2021
Cardiospondylocarpofacial syndrome1Feb 21, 2021
Carney complex, type 11Dec 6, 2021
Carney-Stratakis syndrome1Feb 21, 2021
Carnitine acylcarnitine translocase deficiency1Feb 21, 2021
Carnitine palmitoyl transferase 1A deficiency2Sep 27, 2019
Carnitine palmitoyl transferase II deficiency, neonatal form5Sep 27, 2019
Carnitine palmitoyl transferase II deficiency, severe infantile form11Mar 5, 2021
Cat eye syndrome1Apr 1, 2019
Cataract 1 multiple types1Feb 21, 2021
Cataract 10 multiple types1Mar 5, 2021
Cataract 12 multiple types1Mar 5, 2021
Cataract 181Feb 21, 2021
Cataract 19 multiple types1Feb 21, 2021
Cataract 2, multiple types1Mar 5, 2021
Cataract 361Feb 21, 2021
Cataract 4 multiple types1Mar 14, 2019
Cataract 402Feb 21, 2021
Cataract 431Mar 5, 2021
Cataract 442Mar 5, 2021
Cataract 451Mar 5, 2021
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome3Mar 5, 2021
Catecholaminergic polymorphic ventricular tachycardia 11Feb 21, 2021
Catecholaminergic polymorphic ventricular tachycardia 21Mar 5, 2021
Catecholaminergic polymorphic ventricular tachycardia 31Mar 5, 2021
Catecholaminergic polymorphic ventricular tachycardia 52Mar 5, 2021
Catifa syndrome1Feb 21, 2021
Cayman type cerebellar ataxia1Feb 21, 2021
Cenani-Lenz syndactyly syndrome1Mar 5, 2021
Central core myopathy28Mar 5, 2021
Cerebellar ataxia1Aug 17, 2015
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome1Feb 21, 2021
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 16Mar 5, 2021
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 212Mar 5, 2021
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 44Mar 5, 2021
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome3Feb 21, 2021
Cerebellar atrophy with seizures and variable developmental delay1Feb 21, 2021
Cerebellar atrophy, visual impairment, and psychomotor retardation;8Mar 5, 2021
Cerebellar-facial-dental syndrome3Feb 21, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14Mar 5, 2021
Cerebral cavernous malformation1Nov 14, 2016
Cerebral cavernous malformation 22Mar 5, 2021
Cerebral cavernous malformation 31Nov 29, 2018
Cerebral folate transport deficiency1Feb 21, 2021
Cerebral palsy, spastic quadriplegic, 24Mar 5, 2021
Cerebral palsy, spastic quadriplegic, 33Feb 21, 2021
Cerebrooculofacioskeletal syndrome 17Mar 5, 2021
Cerebrooculofacioskeletal syndrome 22Feb 21, 2021
Cerebrooculofacioskeletal syndrome 316Dec 6, 2021
Cerebroretinal microangiopathy with calcifications and cysts 13Mar 5, 2021
Cerebroretinal microangiopathy with calcifications and cysts 21Feb 21, 2021
Ceroid lipofuscinosis, neuronal, 6A2Feb 21, 2021
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Oct 16, 2017
Char syndrome2Feb 21, 2021
Charcot-Marie-Tooth disease X-linked dominant 12Feb 21, 2021
Charcot-Marie-Tooth disease axonal type 2CC2Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2K1Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2N4Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2O3Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2P2Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2Q3Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2S5Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2T1Aug 17, 2015
Charcot-Marie-Tooth disease axonal type 2U2Mar 5, 2021
Charcot-Marie-Tooth disease axonal type 2X2Feb 21, 2021
Charcot-Marie-Tooth disease axonal type 2Z2Mar 5, 2021
Charcot-Marie-Tooth disease dominant intermediate C2Feb 21, 2021
Charcot-Marie-Tooth disease dominant intermediate D1Feb 21, 2021
Charcot-Marie-Tooth disease dominant intermediate F1Mar 5, 2021
Charcot-Marie-Tooth disease recessive intermediate C6Feb 21, 2021
Charcot-Marie-Tooth disease type 1B1Feb 21, 2021
Charcot-Marie-Tooth disease type 2A25Mar 5, 2021
Charcot-Marie-Tooth disease type 2B21Feb 21, 2021
Charcot-Marie-Tooth disease type 2D3Mar 5, 2021
Charcot-Marie-Tooth disease type 2R1Feb 21, 2021
Charcot-Marie-Tooth disease type 4A2Feb 21, 2021
Charcot-Marie-Tooth disease type 4B12Feb 21, 2021
Charcot-Marie-Tooth disease type 4B26Mar 5, 2021
Charcot-Marie-Tooth disease type 4B36Mar 5, 2021
Charcot-Marie-Tooth disease type 4C7Mar 5, 2021
Charcot-Marie-Tooth disease type 4D2Mar 5, 2021
Charcot-Marie-Tooth disease type 4E1Nov 14, 2016
Charcot-Marie-Tooth disease type 4F7Mar 5, 2021
Charcot-Marie-Tooth disease type 4G1Feb 21, 2021
Charcot-Marie-Tooth disease type 4K1Mar 5, 2021
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1Feb 21, 2021
Charcot-Marie-Tooth disease, axonal, type 2EE1Feb 21, 2021
Charcot-Marie-Tooth disease, type IA3Apr 1, 2019
Charcot-marie-tooth disease, axonal, type 2DD1Feb 21, 2021
Charlevoix-Saguenay spastic ataxia19Mar 5, 2021
Chilblain lupus 12Mar 14, 2019
Childhood apraxia of speech3Mar 5, 2021
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency3Feb 21, 2021
Childhood hypophosphatasia3Mar 5, 2021
Childhood onset GLUT1 deficiency syndrome 23Mar 5, 2021
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Feb 21, 2021
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Feb 21, 2021
Cholestanol storage disease5Feb 21, 2021
Cholestasis, intrahepatic, of pregnancy, 34Mar 5, 2021
Cholestasis, progressive familial intrahepatic, 44Mar 5, 2021
Chondrosarcoma2Dec 6, 2021
Chorea-acanthocytosis7Mar 5, 2021
Christianson syndrome2Mar 5, 2021
Chromosome 16p11.2 duplication syndrome5Apr 1, 2019
Chromosome 16p12.1 deletion syndrome, 520kb6Apr 1, 2019
Chromosome 16p13.3 duplication syndrome1Apr 1, 2019
Chromosome 17P13.3, telomeric, duplication syndrome2Apr 1, 2019
Chromosome 17q11.2 deletion syndrome, 1.4Mb1Mar 5, 2021
Chromosome 17q12 deletion syndrome2Apr 1, 2019
Chromosome 17q12 duplication syndrome4Apr 1, 2019
Chromosome 1p32-p31 deletion syndrome2Feb 21, 2021
Chromosome 1p36 deletion syndrome3Apr 1, 2019
Chromosome 1q21.1 deletion syndrome3Apr 1, 2019
Chromosome 1q21.1 duplication syndrome4Apr 1, 2019
Chromosome 22q11.2 deletion syndrome, distal1Apr 1, 2019
Chromosome 22q11.2 microduplication syndrome12Apr 1, 2019
Chromosome 2q32-q33 deletion syndrome5Mar 5, 2021
Chromosome 2q37 deletion syndrome3Apr 1, 2019
Chronic infantile neurological, cutaneous and articular syndrome1Feb 21, 2021
Chédiak-Higashi syndrome9Mar 5, 2021
Ciliary dyskinesia, primary, 3711Mar 5, 2021
Ciliary dyskinesia, primary, 401Feb 21, 2021
Cirrhosis, familial2Feb 21, 2021
Citrullinemia type I38Oct 7, 2022
Citrullinemia, type II, adult-onset1Feb 21, 2021
Clark-Baraitser syndrome7Mar 5, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Feb 21, 2021
Classic homocystinuria8Feb 21, 2021
Cleft lip/palate-ectodermal dysplasia syndrome1Feb 21, 2021
Cleidocranial dysostosis2Mar 5, 2021
Cobalamin C disease34Oct 7, 2022
Cobblestone lissencephaly without muscular or ocular involvement7Mar 5, 2021
Cockayne syndrome type 23Oct 16, 2017
Coenzyme Q10 deficiency, primary, 15Mar 5, 2021
Coenzyme Q10 deficiency, primary, 34Mar 5, 2021
Coffin-Lowry syndrome1Feb 21, 2021
Coffin-Siris syndrome 138Mar 5, 2021
Coffin-Siris syndrome 101Feb 21, 2021
Coffin-Siris syndrome 121Jul 1, 2021
Coffin-Siris syndrome 52Feb 21, 2021
Coffin-Siris syndrome 67Mar 5, 2021
Coffin-Siris syndrome 71Feb 21, 2021
Coffin-Siris syndrome 85Feb 21, 2021
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome3Mar 5, 2021
Cognitive impairment with or without cerebellar ataxia8Mar 5, 2021
Cohen syndrome27Mar 5, 2021
Cole-Carpenter syndrome 11Mar 5, 2021
Cole-Carpenter syndrome 21Mar 5, 2021
Coloboma of optic nerve1Mar 5, 2021
Coloboma, ocular, autosomal recessive1Mar 5, 2021
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1Mar 5, 2021
Colorectal cancer1Feb 21, 2021
Colorectal cancer, hereditary nonpolyposis, type 26Dec 6, 2021
Colorectal cancer, hereditary nonpolyposis, type 71Feb 10, 2021
Colorectal cancer, susceptibility to, 101Feb 10, 2021
Colorectal cancer, susceptibility to, 1211Feb 10, 2021
Combined deficiency of sialidase AND beta galactosidase1Feb 21, 2021
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia3Mar 5, 2021
Combined immunodeficiency due to CD3gamma deficiency1Feb 21, 2021
Combined immunodeficiency due to DOCK8 deficiency22Mar 5, 2021
Combined immunodeficiency due to GINS1 deficiency1Mar 5, 2021
Combined immunodeficiency due to LRBA deficiency14Mar 5, 2021
Combined immunodeficiency due to MALT1 deficiency6Mar 5, 2021
Combined immunodeficiency due to ORAI1 deficiency2Mar 5, 2021
Combined immunodeficiency due to STIM1 deficiency1Mar 14, 2019
Combined immunodeficiency due to ZAP70 deficiency1Feb 21, 2021
Combined immunodeficiency due to partial RAG1 deficiency5Mar 5, 2021
Combined immunodeficiency with skin granulomas4Feb 21, 2021
Combined immunodeficiency, X-linked1Feb 21, 2021
Combined malonic and methylmalonic acidemia6Mar 5, 2021
Combined oxidative phosphorylation defect type 117Oct 7, 2022
Combined oxidative phosphorylation defect type 1311Mar 5, 2021
Combined oxidative phosphorylation defect type 143Mar 5, 2021
Combined oxidative phosphorylation defect type 157Feb 21, 2021
Combined oxidative phosphorylation defect type 174Feb 21, 2021
Combined oxidative phosphorylation defect type 2014Mar 5, 2021
Combined oxidative phosphorylation defect type 215Mar 5, 2021
Combined oxidative phosphorylation defect type 232Mar 5, 2021
Combined oxidative phosphorylation defect type 246Mar 5, 2021
Combined oxidative phosphorylation defect type 253Mar 5, 2021
Combined oxidative phosphorylation defect type 262Mar 5, 2021
Combined oxidative phosphorylation defect type 278Mar 5, 2021
Combined oxidative phosphorylation defect type 43Mar 5, 2021
Combined oxidative phosphorylation defect type 810Mar 5, 2021
Combined oxidative phosphorylation defect type 91Feb 21, 2021
Combined oxidative phosphorylation deficiency 191Feb 21, 2021
Combined oxidative phosphorylation deficiency 221Mar 5, 2021
Combined oxidative phosphorylation deficiency 291Feb 21, 2021
Combined oxidative phosphorylation deficiency 321Feb 21, 2021
Combined oxidative phosphorylation deficiency 342Feb 21, 2021
Combined oxidative phosphorylation deficiency 352Mar 5, 2021
Combined oxidative phosphorylation deficiency 362Feb 21, 2021
Combined oxidative phosphorylation deficiency 391Feb 21, 2021
Complement component 2 deficiency1Mar 5, 2021
Complement component 3 deficiency1Mar 5, 2021
Complement component 5 deficiency4Mar 5, 2021
Complement component 6 deficiency1Mar 5, 2021
Complement component 7 deficiency2Mar 5, 2021
Complement component 9 deficiency1Mar 5, 2021
Complex cortical dysplasia with other brain malformations 13Mar 5, 2021
Complex cortical dysplasia with other brain malformations 21Aug 17, 2015
Complex cortical dysplasia with other brain malformations 31Mar 5, 2021
Complex cortical dysplasia with other brain malformations 53Feb 21, 2021
Complex cortical dysplasia with other brain malformations 61Feb 21, 2021
Complex cortical dysplasia with other brain malformations 72Feb 21, 2021
Compton-North congenital myopathy1Feb 21, 2021
Cone dystrophy 31Feb 21, 2021
Cone dystrophy with supernormal rod response1Mar 5, 2021
Cone-rod dystrophy 121Feb 21, 2021
Cone-rod dystrophy 133Mar 5, 2021
Cone-rod dystrophy 33Mar 5, 2021
Cone-rod dystrophy 51Mar 5, 2021
Cone-rod dystrophy 71Mar 5, 2021
Cone-rod dystrophy and hearing loss 11Feb 21, 2021
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1Feb 21, 2021
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Mar 5, 2021
Congenital amegakaryocytic thrombocytopenia4Feb 21, 2021
Congenital anomalies of kidney and urinary tract 11Mar 5, 2021
Congenital bilateral aplasia of vas deferens from CFTR mutation186Mar 5, 2021
Congenital bile acid synthesis defect 12Feb 21, 2021
Congenital bile acid synthesis defect 23Feb 21, 2021
Congenital bile acid synthesis defect 34Mar 5, 2021
Congenital bile acid synthesis defect 61Mar 5, 2021
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome3Mar 5, 2021
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome2Oct 16, 2017
Congenital central hypoventilation5Feb 21, 2021
Congenital contractural arachnodactyly5Mar 5, 2021
Congenital contractures of the limbs and face, hypotonia, and developmental delay5Mar 5, 2021
Congenital defect of folate absorption2Feb 21, 2021
Congenital diarrhea 61Mar 5, 2021
Congenital diarrhea 7 with exudative enteropathy3Feb 21, 2021
Congenital disorder of deglycosylation5Mar 5, 2021
Congenital disorder of glycosylation type 1E2Feb 21, 2021
Congenital disorder of glycosylation type Ir2Mar 5, 2021
Congenital disorder of glycosylation with defective fucosylation 11Feb 21, 2021
Congenital disorder of glycosylation with defective fucosylation 23Feb 21, 2021
Congenital disorder of glycosylation, type IAA2Mar 5, 2021
Congenital disorder of glycosylation, type IIq2Feb 21, 2021
Congenital dyserythropoietic anemia, type II1Feb 21, 2021
Congenital generalized lipodystrophy type 12Nov 14, 2016
Congenital glucose-galactose malabsorption3Feb 21, 2021
Congenital heart defects and ectodermal dysplasia5Mar 5, 2021
Congenital heart defects and skeletal malformations syndrome5Mar 5, 2021
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder12Mar 5, 2021
Congenital heart defects, multiple types, 26Mar 5, 2021
Congenital heart defects, multiple types, 51Feb 21, 2021
Congenital heart defects, multiple types, 62Mar 5, 2021
Congenital heart disease2Jan 10, 2017
Congenital hyperammonemia, type I3Mar 5, 2021
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome2Oct 16, 2017
Congenital isolated adrenocorticotropic hormone deficiency1Oct 16, 2017
Congenital lactase deficiency1Mar 5, 2021
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type15Oct 7, 2022
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome3Mar 5, 2021
Congenital microvillous atrophy2Mar 5, 2021
Congenital multicore myopathy with external ophthalmoplegia10Feb 21, 2021
Congenital muscular dystrophy due to LMNA mutation3Feb 21, 2021
Congenital muscular dystrophy due to integrin alpha-7 deficiency7Mar 5, 2021
Congenital muscular dystrophy with cataracts and intellectual disability2Mar 5, 2021
Congenital muscular dystrophy with intellectual disability and severe epilepsy1Feb 21, 2021
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1Feb 21, 2021
Congenital muscular hypertrophy-cerebral syndrome19Mar 5, 2021
Congenital myasthenic syndrome 1010Oct 7, 2022
Congenital myasthenic syndrome 113Oct 7, 2022
Congenital myasthenic syndrome 122Mar 5, 2021
Congenital myasthenic syndrome 164Mar 5, 2021
Congenital myasthenic syndrome 193Mar 5, 2021
Congenital myasthenic syndrome 214Mar 5, 2021
Congenital myasthenic syndrome 3A3Mar 5, 2021
Congenital myasthenic syndrome 4A1Mar 5, 2021
Congenital myasthenic syndrome 4B5Feb 21, 2021
Congenital myasthenic syndrome 4C8Sep 27, 2019
Congenital myasthenic syndrome 53Mar 5, 2021
Congenital myasthenic syndrome 71Feb 21, 2021
Congenital myasthenic syndrome 814Mar 5, 2021
Congenital myasthenic syndrome 93Feb 21, 2021
Congenital myopathy with fiber type disproportion5Feb 21, 2021
Congenital myopathy with internal nuclei and atypical cores1Mar 5, 2021
Congenital myotonia, autosomal dominant form4Mar 5, 2021
Congenital myotonia, autosomal recessive form4Mar 14, 2019
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome3Feb 21, 2021
Congenital neutropenia-myelofibrosis-nephromegaly syndrome3Feb 21, 2021
Congenital nongoitrous hypothryoidism 61Oct 16, 2017
Congenital nonprogressive myopathy with Moebius and Robin sequences2Feb 21, 2021
Congenital plasminogen activator inhibitor type 1 deficiency1Mar 5, 2021
Congenital prothrombin deficiency2Mar 5, 2021
Congenital secretory diarrhea, chloride type1Feb 21, 2021
Congenital secretory sodium diarrhea 31Feb 21, 2021
Congenital secretory sodium diarrhea 81Mar 5, 2021
Congenital sensory neuropathy with selective loss of small myelinated fibers3Mar 5, 2021
Conotruncal heart malformations2Mar 5, 2021
Corneal dystrophy, Fuchs endothelial, 41Feb 21, 2021
Corneal dystrophy, Fuchs endothelial, 61Mar 5, 2021
Cornelia de Lange syndrome 112Feb 21, 2021
Cornelia de Lange syndrome 35Feb 21, 2021
Cornelia de Lange syndrome 43Mar 5, 2021
Cornelia de Lange syndrome 59Feb 21, 2021
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome2Feb 21, 2021
Cortical dysplasia, complex, with other brain malformations 91Feb 21, 2021
Cortical dysplasia-focal epilepsy syndrome17Mar 5, 2021
Corticosteroid-binding globulin deficiency2Feb 21, 2021
Cortisone reductase deficiency 11Feb 21, 2021
Costello syndrome7Mar 5, 2021
Cowden syndrome 18Mar 5, 2021
Cowden syndrome 51Mar 5, 2021
Cowden syndrome 61Mar 5, 2021
Cowden syndrome 73Mar 5, 2021
Cranioectodermal dysplasia 11Feb 21, 2021
Cranioectodermal dysplasia 24Mar 5, 2021
Craniofacial dysplasia - osteopenia syndrome4Mar 5, 2021
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome4Mar 5, 2021
Craniofacial-deafness-hand syndrome1Feb 21, 2021
Craniolenticulosutural dysplasia1Mar 5, 2021
Creatine transporter deficiency3Feb 21, 2021
Crigler-Najjar syndrome type 11Oct 7, 2022
Crouzon syndrome1Nov 23, 2018
Crouzon syndrome-acanthosis nigricans syndrome2Mar 14, 2019
Cryptosporidiosis-chronic cholangitis-liver disease syndrome3Mar 5, 2021
Curry-Hall syndrome3Mar 5, 2021
Cutis laxa with osteodystrophy2Mar 5, 2021
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies4Mar 5, 2021
Cutis laxa, X-linked2Feb 21, 2021
Cutis laxa, autosomal dominant 12Mar 5, 2021
Cutis laxa, autosomal dominant 23Mar 5, 2021
Cutis laxa, autosomal dominant 34Mar 5, 2021
Cutis laxa, autosomal recessive, type 1A1Mar 14, 2019
Cutis laxa, autosomal recessive, type 1B1Feb 21, 2021
Cyclical neutropenia1Mar 5, 2021
Cystathioninuria1Mar 5, 2021
Cystic fibrosis208Oct 7, 2022
Cytochrome-c oxidase deficiency disease15Mar 5, 2021
Czech dysplasia, metatarsal type1Feb 21, 2021
D-2-hydroxyglutaric aciduria 16Mar 5, 2021
D-2-hydroxyglutaric aciduria 23Feb 21, 2021
D-Glyceric aciduria4Mar 5, 2021
DDX41-related hematologic malignancy predisposition syndrome1Feb 10, 2021
DICER1 syndrome2Feb 10, 2021
DK1-congenital disorder of glycosylation1Mar 5, 2021
DOCK2 deficiency11Mar 5, 2021
DOORS syndrome3Feb 21, 2021
DPAGT1-congenital disorder of glycosylation2Mar 5, 2021
DYRK1A-related intellectual disability syndrome9Mar 5, 2021
Dalmatian hypouricemia1Feb 21, 2021
Danon disease3Feb 21, 2021
DeSanto-Shinawi syndrome due to WAC point mutation2Mar 5, 2021
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 12Mar 5, 2021
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome2Mar 5, 2021
Deafness-infertility syndrome1Feb 21, 2021
Deafness-lymphedema-leukemia syndrome1Feb 21, 2021
Decreased serum complement C4a2Mar 5, 2021
Decreased serum complement C4b1Mar 5, 2021
Deficiency of 2-methylbutyryl-CoA dehydrogenase6Mar 5, 2021
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1Feb 21, 2021
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase28Oct 7, 2022
Deficiency of alpha-mannosidase8Feb 21, 2021
Deficiency of aromatic-L-amino-acid decarboxylase1Feb 21, 2021
Deficiency of beta-ureidopropionase4Mar 5, 2021
Deficiency of butyryl-CoA dehydrogenase1Mar 5, 2021
Deficiency of glycerol kinase1Feb 21, 2021
Deficiency of guanidinoacetate methyltransferase5Mar 5, 2021
Deficiency of hydroxymethylglutaryl-CoA lyase3Feb 21, 2021
Deficiency of iodide peroxidase4Feb 21, 2021
Deficiency of isobutyryl-CoA dehydrogenase5Mar 5, 2021
Deficiency of phosphoserine phosphatase1Mar 5, 2021
Deficiency of pyrroline-5-carboxylate reductase3Mar 5, 2021
Deficiency of steroid 11-beta-monooxygenase1Feb 21, 2021
Deficiency of transaldolase7Mar 5, 2021
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema6Mar 5, 2021
Dejerine-Sottas disease2Feb 21, 2021
Delayed speech and language development17Jul 17, 2021
Dent disease type 11Oct 16, 2017
Dent disease type 24Mar 5, 2021
Dentin dysplasia type I1Feb 21, 2021
Dermatitis, atopic, 23Mar 5, 2021
Desbuquois dysplasia 12Mar 5, 2021
Desbuquois dysplasia 21Mar 5, 2021
Desmin-related myofibrillar myopathy2Feb 21, 2021
Desmoid disease, hereditary4Feb 21, 2021
Desmosterolosis3Feb 21, 2021
Developmental and epileptic encephalopathy 949Mar 5, 2021
Developmental and epileptic encephalopathy, 12Feb 21, 2021
Developmental and epileptic encephalopathy, 1110Mar 5, 2021
Developmental and epileptic encephalopathy, 125Mar 5, 2021
Developmental and epileptic encephalopathy, 1312Mar 5, 2021
Developmental and epileptic encephalopathy, 147Mar 14, 2019
Developmental and epileptic encephalopathy, 153Mar 5, 2021
Developmental and epileptic encephalopathy, 161Mar 14, 2019
Developmental and epileptic encephalopathy, 172Mar 14, 2019
Developmental and epileptic encephalopathy, 1824Mar 5, 2021
Developmental and epileptic encephalopathy, 26Mar 5, 2021
Developmental and epileptic encephalopathy, 212Mar 5, 2021
Developmental and epileptic encephalopathy, 237Mar 5, 2021
Developmental and epileptic encephalopathy, 243Mar 5, 2021
Developmental and epileptic encephalopathy, 259Mar 5, 2021
Developmental and epileptic encephalopathy, 267Mar 5, 2021
Developmental and epileptic encephalopathy, 275Feb 21, 2021
Developmental and epileptic encephalopathy, 2813Mar 5, 2021
Developmental and epileptic encephalopathy, 291Feb 21, 2021
Developmental and epileptic encephalopathy, 31Mar 5, 2021
Developmental and epileptic encephalopathy, 304Feb 21, 2021
Developmental and epileptic encephalopathy, 313Mar 5, 2021
Developmental and epileptic encephalopathy, 349Mar 5, 2021
Developmental and epileptic encephalopathy, 353Mar 5, 2021
Developmental and epileptic encephalopathy, 364Mar 5, 2021
Developmental and epileptic encephalopathy, 377Mar 5, 2021
Developmental and epileptic encephalopathy, 382Mar 5, 2021
Developmental and epileptic encephalopathy, 391Mar 5, 2021
Developmental and epileptic encephalopathy, 48Mar 5, 2021
Developmental and epileptic encephalopathy, 402Feb 21, 2021
Developmental and epileptic encephalopathy, 412Mar 5, 2021
Developmental and epileptic encephalopathy, 4213Mar 5, 2021
Developmental and epileptic encephalopathy, 432Feb 21, 2021
Developmental and epileptic encephalopathy, 442Feb 21, 2021
Developmental and epileptic encephalopathy, 451Mar 5, 2021
Developmental and epileptic encephalopathy, 467Mar 5, 2021
Developmental and epileptic encephalopathy, 472Mar 5, 2021
Developmental and epileptic encephalopathy, 487Mar 5, 2021
Developmental and epileptic encephalopathy, 494Mar 5, 2021
Developmental and epileptic encephalopathy, 55Mar 5, 2021
Developmental and epileptic encephalopathy, 5015Mar 5, 2021
Developmental and epileptic encephalopathy, 515Mar 5, 2021
Developmental and epileptic encephalopathy, 522Feb 21, 2021
Developmental and epileptic encephalopathy, 533Mar 5, 2021
Developmental and epileptic encephalopathy, 545Mar 5, 2021
Developmental and epileptic encephalopathy, 551Feb 21, 2021
Developmental and epileptic encephalopathy, 562Feb 21, 2021
Developmental and epileptic encephalopathy, 572Mar 5, 2021
Developmental and epileptic encephalopathy, 604Mar 5, 2021
Developmental and epileptic encephalopathy, 643Mar 5, 2021
Developmental and epileptic encephalopathy, 655Mar 5, 2021
Developmental and epileptic encephalopathy, 662Feb 21, 2021
Developmental and epileptic encephalopathy, 682Feb 21, 2021
Developmental and epileptic encephalopathy, 77Mar 5, 2021
Developmental and epileptic encephalopathy, 742Feb 21, 2021
Developmental and epileptic encephalopathy, 83Mar 5, 2021
Developmental and epileptic encephalopathy, 801Feb 21, 2021
Developmental and epileptic encephalopathy, 95Feb 21, 2021
Developmental delay and seizures with or without movement abnormalities1Feb 21, 2021
Developmental delay with autism spectrum disorder and gait instability32Mar 5, 2021
Developmental delay with or without dysmorphic facies and autism5Feb 21, 2021
Developmental delay with variable intellectual impairment and behavioral abnormalities3Feb 21, 2021
Developmental malformations-deafness-dystonia syndrome1Feb 10, 2021
Developmental regression2Feb 21, 2020
DiGeorge syndrome8Feb 21, 2021
Diabetes insipidus, nephrogenic, X-linked1Nov 14, 2016
Diabetes insipidus, nephrogenic, autosomal3Feb 21, 2021
Diabetes mellitus, transient neonatal, 34Mar 5, 2021
Diamond-Blackfan anemia 12Feb 21, 2021
Diamond-Blackfan anemia 101Dec 6, 2021
Diamond-Blackfan anemia 121Feb 21, 2021
Diamond-Blackfan anemia 35Dec 6, 2021
Diamond-Blackfan anemia 51Feb 10, 2021
Diamond-Blackfan anemia 64Feb 21, 2021
Diamond-Blackfan anemia 83Mar 5, 2021
Diamond-Blackfan anemia 93Feb 10, 2021
Dias-Logan syndrome2Feb 21, 2021
Dicarboxylic aminoaciduria1Mar 5, 2021
Diencephalic-mesencephalic junction dysplasia syndrome 15Feb 21, 2021
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2Feb 21, 2021
Dihydropteridine reductase deficiency2Feb 21, 2021
Dihydropyrimidinase deficiency2Feb 21, 2021
Dihydropyrimidine dehydrogenase deficiency11Oct 7, 2022
Dilated cardiomyopathy 1A4Mar 5, 2021
Dilated cardiomyopathy 1AA3Feb 21, 2021
Dilated cardiomyopathy 1BB1Mar 5, 2021
Dilated cardiomyopathy 1C3Mar 5, 2021
Dilated cardiomyopathy 1CC5Feb 21, 2021
Dilated cardiomyopathy 1D1Mar 5, 2021
Dilated cardiomyopathy 1DD2Feb 21, 2021
Dilated cardiomyopathy 1EE1Mar 5, 2021
Dilated cardiomyopathy 1G41Mar 5, 2021
Dilated cardiomyopathy 1GG1Mar 5, 2021
Dilated cardiomyopathy 1HH1Mar 5, 2021
Dilated cardiomyopathy 1I1Feb 21, 2021
Dilated cardiomyopathy 1JJ2Mar 5, 2021
Dilated cardiomyopathy 1KK1Mar 5, 2021
Dilated cardiomyopathy 1O2Mar 5, 2021
Dilated cardiomyopathy 1P1Feb 21, 2021
Dilated cardiomyopathy 1R1Feb 21, 2021
Dilated cardiomyopathy 1S8Mar 5, 2021
Dilated cardiomyopathy 1W2Mar 5, 2021
Dilated cardiomyopathy 1Y4Feb 21, 2021
Dilated cardiomyopathy 1Z1Feb 21, 2021
Dilated cardiomyopathy 2A1Mar 5, 2021
Dilated cardiomyopathy 3B3Mar 5, 2021
Distal 10q deletion syndrome1Apr 1, 2019
Distal 16p11.2 microdeletion syndrome2Apr 1, 2019
Distal arthrogryposis type 2B14Mar 5, 2021
Distal arthrogryposis type 5D2Feb 21, 2021
Distal myopathy with posterior leg and anterior hand involvement1Mar 5, 2021
Distichiasis-lymphedema syndrome3Mar 5, 2021
Dominant dystrophic epidermolysis bullosa with absence of skin2Mar 14, 2019
Donnai-Barrow syndrome10Mar 5, 2021
Dopamine beta-hydroxylase deficiency2Mar 5, 2021
Drash syndrome1Feb 21, 2021
Dubin-Johnson syndrome5Feb 21, 2021
Duchenne muscular dystrophy15Oct 7, 2022
Dyggve-Melchior-Clausen syndrome1Mar 5, 2021
Dysarthria1Aug 17, 2015
Dyskeratosis congenita, X-linked1Oct 16, 2017
Dyskeratosis congenita, autosomal dominant 27Dec 6, 2021
Dyskeratosis congenita, autosomal dominant 31Dec 6, 2021
Dyskeratosis congenita, autosomal dominant 61Mar 5, 2021
Dyskeratosis congenita, autosomal recessive 21Feb 10, 2021
Dyskeratosis congenita, autosomal recessive 31Dec 6, 2021
Dyskeratosis congenita, autosomal recessive 59Mar 5, 2021
Dyskeratosis congenita, autosomal recessive 62Mar 5, 2021
Dyskinesia with orofacial involvement, autosomal dominant5Mar 5, 2021
Dyslexia, susceptibility to, 21Mar 5, 2021
Dysmorphic features4Jan 10, 2017
Dyssynergia2Nov 12, 2016
Dystonia 123Mar 5, 2021
Dystonia 162Mar 14, 2019
Dystonia 232Mar 5, 2021
Dystonia 271Feb 21, 2021
Dystonia 28, childhood-onset8Mar 5, 2021
Dystonia 51Feb 21, 2021
Dystonia 94Mar 5, 2021
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities1Feb 21, 2021
Dystonic disorder1Aug 17, 2015
EAST syndrome2Feb 21, 2021
EEM syndrome1Feb 21, 2021
Early-onset Lafora body disease2Mar 5, 2021
Early-onset generalized limb-onset dystonia3Mar 5, 2021
Early-onset myopathy with fatal cardiomyopathy24Feb 21, 2021
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome23Mar 5, 2021
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome4Mar 5, 2021
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive2Mar 5, 2021
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2Feb 21, 2021
Ectodermal dysplasia and immunodeficiency 21Mar 5, 2021
Ectodermal dysplasia-syndactyly syndrome 12Mar 5, 2021
Ectopia lentis 1, isolated, autosomal dominant1Feb 21, 2021
Ehlers-Danlos syndrome due to tenascin-X deficiency8Mar 5, 2021
Ehlers-Danlos syndrome progeroid type2Mar 5, 2021
Ehlers-Danlos syndrome, cardiac valvular type1Mar 14, 2019
Ehlers-Danlos syndrome, classic type3Apr 1, 2019
Ehlers-Danlos syndrome, classic type, 16Mar 5, 2021
Ehlers-Danlos syndrome, classic type, 22Feb 21, 2021
Ehlers-Danlos syndrome, classic-like, 23Mar 5, 2021
Ehlers-Danlos syndrome, dermatosparaxis type7Mar 5, 2021
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type2Feb 21, 2021
Ehlers-Danlos syndrome, kyphoscoliotic type 17Mar 5, 2021
Ehlers-Danlos syndrome, musculocontractural type 12Mar 5, 2021
Ehlers-Danlos syndrome, musculocontractural type 26Feb 21, 2021
Ehlers-Danlos syndrome, spondylodysplastic type, 23Mar 5, 2021
Ehlers-Danlos syndrome, type 45Mar 5, 2021
Ehlers-danlos syndrome, arthrochalasia type, 22Mar 5, 2021
Eichsfeld type congenital muscular dystrophy1Feb 21, 2021
Elliptocytosis 25Mar 5, 2021
Elliptocytosis 37Mar 5, 2021
Ellis-van Creveld syndrome10Mar 5, 2021
Emery-Dreifuss muscular dystrophy 4, autosomal dominant27Mar 5, 2021
Emery-Dreifuss muscular dystrophy 5, autosomal dominant10Mar 5, 2021
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization1Feb 21, 2021
Encephalocraniocutaneous lipomatosis3Feb 21, 2021
Encephalopathy due to GLUT1 deficiency3Mar 14, 2019
Encephalopathy due to defective mitochondrial and peroxisomal fission 23Mar 5, 2021
Encephalopathy due to prosaposin deficiency5Mar 5, 2021
Encephalopathy, acute, infection-induced, susceptibility to, 91Feb 21, 2021
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 18Mar 5, 2021
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities3Mar 5, 2021
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 12Feb 21, 2021
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis1Feb 21, 2021
Encephalopathy, progressive, with amyotrophy and optic atrophy4Mar 5, 2021
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2Mar 5, 2021
Endometrial carcinoma1Feb 10, 2021
Enterokinase deficiency3Mar 5, 2021
Epidermolysis bullosa pruriginosa2Mar 14, 2019
Epidermolysis bullosa simplex1Oct 16, 2017
Epidermolysis bullosa simplex 1C, localized1Feb 21, 2021
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency1Mar 5, 2021
Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive1Feb 21, 2021
Epidermolysis bullosa simplex 5B, with muscular dystrophy1Mar 5, 2021
Epidermolysis bullosa simplex 5C, with pyloric atresia4Mar 5, 2021
Epidermolysis bullosa simplex with nail dystrophy4Feb 21, 2021
Epilepsy4Jan 10, 2017
Epilepsy, childhood absence 21Mar 14, 2019
Epilepsy, childhood absence, susceptibility to, 51Aug 17, 2015
Epilepsy, childhood absence, susceptibility to, 617Mar 5, 2021
Epilepsy, early-onset, vitamin B6-dependent5Mar 5, 2021
Epilepsy, familial adult myoclonic, 23Mar 5, 2021
Epilepsy, familial adult myoclonic, 53Mar 5, 2021
Epilepsy, familial focal, with variable foci 111Mar 5, 2021
Epilepsy, familial focal, with variable foci 31Mar 5, 2021
Epilepsy, familial focal, with variable foci 44Mar 5, 2021
Epilepsy, familial temporal lobe, 13Feb 21, 2021
Epilepsy, idiopathic generalized, susceptibility to, 102Mar 5, 2021
Epilepsy, idiopathic generalized, susceptibility to, 121Mar 14, 2019
Epilepsy, idiopathic generalized, susceptibility to, 141Mar 14, 2019
Epilepsy, idiopathic generalized, susceptibility to, 71Oct 16, 2017
Epilepsy, idiopathic generalized, susceptibility to, 91Nov 14, 2016
Epilepsy, juvenile absence, susceptibility to, 12Mar 5, 2021
Epilepsy, progressive myoclonic 51Aug 17, 2015
Epileptic encephalopathy5Nov 14, 2016
Epileptic encephalopathy, infantile or early childhood, 12Apr 16, 2021
Epileptic encephalopathy, infantile or early childhood, 22Feb 21, 2021
Epileptic encephalopathy, infantile or early childhood, 31Feb 21, 2021
Epiphyseal dysplasia, multiple, 31Nov 14, 2016
Epiphyseal dysplasia, multiple, 61Nov 14, 2016
Episodic ataxia type 11Feb 21, 2021
Episodic ataxia type 27Mar 5, 2021
Episodic ataxia type 61Feb 21, 2021
Episodic flaccid weakness4Sep 3, 2015
Episodic kinesigenic dyskinesia 12Mar 5, 2021
Episodic pain syndrome, familial, 22Mar 5, 2021
Epsilon-trimethyllysine hydroxylase deficiency1Oct 16, 2017
Essential hypertension1Mar 5, 2021
Ethylmalonic encephalopathy2Mar 5, 2021
Euthyroid goiter8Feb 11, 2022
Exostoses, multiple, type 26Dec 6, 2021
Expressive language delay12Jul 10, 2017
Exudative vitreoretinopathy 11Mar 5, 2021
Exudative vitreoretinopathy 41Feb 21, 2021
Exudative vitreoretinopathy 51Feb 21, 2021
Exudative vitreoretinopathy 72Mar 5, 2021
FG syndrome 12Feb 21, 2021
FG syndrome 23Feb 21, 2021
FG syndrome 42Feb 21, 2021
FLNA related disorders1Oct 16, 2017
FRAXE4Feb 21, 2021
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome14Feb 11, 2022
Factor H deficiency2Feb 21, 2021
Factor V deficiency2Mar 5, 2021
Factor VII deficiency2Feb 21, 2021
Factor XIII, b subunit, deficiency of1Mar 5, 2021
Failure to thrive7Jan 10, 2017
Familial Mediterranean fever, autosomal dominant1Feb 21, 2021
Familial X-linked hypophosphatemic vitamin D refractory rickets3Feb 21, 2021
Familial acute necrotizing encephalopathy3Feb 21, 2021
Familial adenomatous polyposis 119Feb 11, 2022
Familial adenomatous polyposis 29Feb 11, 2022
Familial adenomatous polyposis 33Feb 10, 2021
Familial adenomatous polyposis 43Mar 5, 2021
Familial amyloid nephropathy with urticaria AND deafness1Feb 21, 2021
Familial cancer of breast164Sep 14, 2022
Familial chronic mucocutaneous candidiasis1Feb 21, 2021
Familial cold autoinflammatory syndrome 11Feb 21, 2021
Familial cold autoinflammatory syndrome 24Feb 21, 2021
Familial cold autoinflammatory syndrome 42Mar 5, 2021
Familial dysautonomia4Feb 11, 2022
Familial episodic pain syndrome with predominantly lower limb involvement1Mar 5, 2021
Familial episodic pain syndrome with predominantly upper body involvement1Mar 5, 2021
Familial expansile osteolysis3Mar 5, 2021
Familial gestational hyperthyroidism1Feb 21, 2021
Familial hemophagocytic lymphohistiocytosis 25Feb 21, 2021
Familial hemophagocytic lymphohistiocytosis 39Mar 5, 2021
Familial hemophagocytic lymphohistiocytosis 55Mar 5, 2021
Familial hyperaldosteronism type II1Feb 21, 2021
Familial hyperaldosteronism type III1Feb 21, 2021
Familial hypobetalipoproteinemia 13Feb 21, 2021
Familial hypocalciuric hypercalcemia 31Feb 21, 2021
Familial hypokalemia-hypomagnesemia5Oct 7, 2022
Familial infantile myasthenia5Mar 5, 2021
Familial infantile myoclonic epilepsy1Mar 14, 2019
Familial isolated deficiency of vitamin E1Sep 27, 2019
Familial medullary thyroid carcinoma12Dec 6, 2021
Familial meningioma3Feb 21, 2021
Familial spontaneous pneumothorax3Mar 5, 2021
Familial temporal lobe epilepsy 54Mar 5, 2021
Familial temporal lobe epilepsy 72Mar 5, 2021
Familial thyroid dyshormonogenesis 11Mar 5, 2021
Fanconi anemia complementation group A41Dec 6, 2021
Fanconi anemia complementation group B1Feb 10, 2021
Fanconi anemia complementation group C33Oct 7, 2022
Fanconi anemia complementation group D13Mar 5, 2021
Fanconi anemia complementation group D220Dec 6, 2021
Fanconi anemia complementation group E11Dec 6, 2021
Fanconi anemia complementation group F6Feb 11, 2022
Fanconi anemia complementation group G7Dec 6, 2021
Fanconi anemia complementation group I17Feb 11, 2022
Fanconi anemia complementation group J4Dec 6, 2021
Fanconi anemia complementation group L8Feb 11, 2022
Fanconi anemia complementation group N6Feb 11, 2022
Fanconi anemia complementation group O6Dec 6, 2021
Fanconi anemia complementation group P41Feb 11, 2022
Fanconi anemia complementation group Q21Dec 6, 2021
Fanconi anemia complementation group U2Feb 21, 2021
Fanconi anemia, complementation group S2Feb 10, 2021
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Mar 14, 2019
Farber lipogranulomatosis3Mar 5, 2021
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31Mar 5, 2021
Febrile seizures, familial, 43Mar 5, 2021
Febrile seizures, familial, 81Mar 14, 2019
Fetal akinesia deformation sequence 115Mar 5, 2021
Fetal akinesia deformation sequence 41Feb 21, 2021
Fetal hemoglobin quantitative trait locus 11Feb 21, 2021
Fibrochondrogenesis 15Mar 5, 2021
Fibromatosis, gingival, 11Mar 5, 2021
Fibromatosis, gingival, 51Feb 10, 2021
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Feb 21, 2021
Fibrosis, neurodegeneration, and cerebral angiomatosis1Feb 21, 2021
Filippi syndrome3Mar 5, 2021
Finnish congenital nephrotic syndrome10Oct 7, 2022
Floating-Harbor syndrome9Mar 5, 2021
Focal dermal hypoplasia1Feb 21, 2021
Focal segmental glomerulosclerosis 12Mar 5, 2021
Focal segmental glomerulosclerosis 24Mar 5, 2021
Focal segmental glomerulosclerosis 3, susceptibility to2Feb 21, 2021
Focal segmental glomerulosclerosis 4, susceptibility to1Mar 5, 2021
Focal segmental glomerulosclerosis 61Mar 5, 2021
Focal segmental glomerulosclerosis 81Feb 21, 2021
Focal segmental glomerulosclerosis 95Mar 5, 2021
Fontaine progeroid syndrome1Mar 5, 2021
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome1Mar 5, 2021
Fowler syndrome1Mar 5, 2021
Fragile X syndrome2Feb 21, 2021
Frank-Ter Haar syndrome1Feb 21, 2021
Fraser syndrome 14Feb 21, 2021
Fraser syndrome 21Mar 5, 2021
Fraser syndrome 31Feb 21, 2021
Frasier syndrome2Feb 21, 2021
Freeman-Sheldon syndrome1Feb 21, 2021
Friedreich ataxia 11Mar 5, 2021
Frontometaphyseal dysplasia 21Mar 5, 2021
Frontonasal dysplasia with alopecia and genital anomaly1Mar 5, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Feb 21, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 62Mar 5, 2021
Fumarase deficiency2Sep 27, 2019
GM1 gangliosidosis type 23Mar 14, 2019
GM1 gangliosidosis type 33Feb 21, 2021
GM3 synthase deficiency7Feb 21, 2021
GNE myopathy6Mar 5, 2021
GRACILE syndrome3Oct 7, 2022
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions2Feb 21, 2021
Gabriele de Vries syndrome4Mar 5, 2021
Galactosylceramide beta-galactosidase deficiency14Mar 5, 2021
Galloway-Mowat syndrome 13Mar 5, 2021
Galloway-Mowat syndrome 33Mar 5, 2021
Galloway-Mowat syndrome 43Mar 5, 2021
Gapo syndrome1Mar 5, 2021
Gastrointestinal stroma tumor7Dec 6, 2021
Gaucher disease perinatal lethal2Feb 21, 2021
Gaucher disease type I34Oct 7, 2022
Gaucher disease type II31Feb 21, 2021
Gaucher disease type III30Sep 27, 2019
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome30Sep 27, 2019
Gaze palsy, familial horizontal, with progressive scoliosis 11Oct 16, 2017
Gaze palsy, familial horizontal, with progressive scoliosis, 21Mar 5, 2021
Generalized dominant dystrophic epidermolysis bullosa3Mar 14, 2019
Generalized epilepsy with febrile seizures plus, type 11Apr 1, 2019
Generalized epilepsy with febrile seizures plus, type 28Mar 5, 2021
Generalized epilepsy with febrile seizures plus, type 712Mar 5, 2021
Generalized epilepsy with febrile seizures plus, type 92Mar 5, 2021
Generalized epilepsy-paroxysmal dyskinesia syndrome1Oct 16, 2017
Generalized juvenile polyposis/juvenile polyposis coli1Mar 5, 2021
Generalized pustular psoriasis1Feb 21, 2021
Genitopatellar syndrome9Mar 5, 2021
Geroderma osteodysplastica1Mar 5, 2021
Ghosal hematodiaphyseal dysplasia1Feb 21, 2021
Giant axonal neuropathy 14Feb 21, 2021
Gillespie syndrome7Feb 21, 2021
Glanzmann thrombasthenia2Mar 5, 2021
Glaucoma 3, primary congenital, D2Feb 11, 2022
Glaucoma 3A6Oct 7, 2022
Global developmental delay37Jul 17, 2021
Global developmental delay with or without impaired intellectual development4Feb 21, 2021
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies2Mar 5, 2021
Glomerulopathy with fibronectin deposits 21Mar 5, 2021
Glucocorticoid deficiency 44Feb 21, 2021
Glucocorticoid deficiency with achalasia1Feb 21, 2021
Glucocorticoid resistance1Feb 21, 2021
Glucose-6-phosphate transport defect2Feb 21, 2021
Glutamate formiminotransferase deficiency2Aug 17, 2015
Glutamate pyruvate transaminase 2 deficiency3Mar 5, 2021
Glutaric aciduria, type 18Mar 5, 2021
Glycogen storage disease IXa13Mar 5, 2021
Glycogen storage disease IXb1Feb 21, 2021
Glycogen storage disease IXc4Mar 5, 2021
Glycogen storage disease IXd4Mar 5, 2021
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA19Feb 21, 2021
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1Feb 21, 2021
Glycogen storage disease due to muscle and heart glycogen synthase deficiency2Mar 5, 2021
Glycogen storage disease type III10Mar 5, 2021
Glycogen storage disease, type II10Mar 5, 2021
Glycogen storage disease, type IV2Feb 21, 2021
Glycogen storage disease, type V3Mar 5, 2021
Glycogen storage disease, type VI7Mar 5, 2021
Glycogen storage disease, type VII1Feb 21, 2021
Glycogen storage disorder due to hepatic glycogen synthase deficiency2Mar 5, 2021
Glycosylphosphatidylinositol biosynthesis defect 155Mar 5, 2021
Glycosylphosphatidylinositol biosynthesis defect 164Mar 5, 2021
Glycosylphosphatidylinositol biosynthesis defect 183Feb 21, 2021
Gnathodiaphyseal dysplasia2Mar 5, 2021
Gnb5-related intellectual disability-cardiac arrhythmia syndrome2Mar 5, 2021
Gordon syndrome4Mar 5, 2021
Gorlin syndrome18Dec 6, 2021
Grange syndrome2Mar 5, 2021
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2Mar 5, 2021
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 22Mar 5, 2021
Gray platelet syndrome4Feb 21, 2021
Grebe syndrome1Feb 21, 2021
Griscelli syndrome type 12Mar 5, 2021
Griscelli syndrome type 21Mar 14, 2019
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome3Mar 5, 2021
Growth delay due to insulin-like growth factor I resistance10Mar 5, 2021
Growth delay due to insulin-like growth factor type 1 deficiency1Mar 5, 2021
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1Feb 21, 2021
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy12Mar 5, 2021
H syndrome1Feb 21, 2021
HSD10 mitochondrial disease2Feb 21, 2021
Hair-pulling1Feb 21, 2021
Hajdu-Cheney syndrome4Mar 5, 2021
Harel-Yoon syndrome7Mar 5, 2021
Hartsfield-Bixler-Demyer syndrome3Feb 21, 2021
Hb SS disease41Oct 6, 2022
Hearing loss, autosomal dominant 711Mar 5, 2021
Hearing loss, autosomal dominant 721Feb 21, 2021
Hearing loss, autosomal recessive 1062Feb 21, 2021
Hearing loss, autosomal recessive 1071Feb 21, 2021
Hearing loss, autosomal recessive 1081Feb 21, 2021
Hearing loss, autosomal recessive 1111Mar 5, 2021
Hearing loss, autosomal recessive 1121Feb 21, 2021
Hearing loss, autosomal recessive 572Feb 11, 2022
Hearing loss, autosomal recessive 941Feb 21, 2021
Hearing loss, autosomal recessive 992Feb 21, 2021
Heart and brain malformation syndrome1Feb 21, 2021
Heart defect - tongue hamartoma - polysyndactyly syndrome1Oct 16, 2017
Heimler syndrome 19Mar 5, 2021
Heimler syndrome 25Mar 5, 2021
Hemochromatosis type 13Mar 5, 2021
Hemolytic anemia due to glucophosphate isomerase deficiency3Mar 5, 2021
Hemolytic anemia due to hexokinase deficiency3Mar 5, 2021
Hemolytic uremic syndrome, atypical, susceptibility to, 13Mar 5, 2021
Hennekam lymphangiectasia-lymphedema syndrome 13Feb 21, 2021
Hennekam lymphangiectasia-lymphedema syndrome 211Mar 5, 2021
Hepatic veno-occlusive disease-immunodeficiency syndrome4Mar 5, 2021
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 13Feb 21, 2021
Hereditary acrodermatitis enteropathica1Feb 21, 2021
Hereditary angioedema type 13Mar 5, 2021
Hereditary antithrombin deficiency1Feb 21, 2021
Hereditary coproporphyria1Nov 14, 2016
Hereditary cryohydrocytosis with reduced stomatin1Mar 14, 2019
Hereditary diffuse leukoencephalopathy with spheroids5Mar 5, 2021
Hereditary factor VIII deficiency disease1Feb 21, 2021
Hereditary factor XI deficiency disease1Mar 5, 2021
Hereditary fructosuria5Sep 27, 2019
Hereditary insensitivity to pain with anhidrosis7Mar 5, 2021
Hereditary intrinsic factor deficiency1Mar 5, 2021
Hereditary liability to pressure palsies6Feb 21, 2021
Hereditary lymphedema type I1Feb 21, 2021
Hereditary motor and sensory neuropathy with optic atrophy1Mar 5, 2021
Hereditary pancreatitis4Feb 21, 2021
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement2Mar 5, 2021
Hereditary sensory and autonomic neuropathy type 11Aug 17, 2015
Hereditary sensory and autonomic neuropathy type 66Mar 5, 2021
Hereditary sensory and autonomic neuropathy with spastic paraplegia2Mar 5, 2021
Hereditary spastic paraplegia 101Feb 21, 2021
Hereditary spastic paraplegia 115Feb 21, 2021
Hereditary spastic paraplegia 122Feb 21, 2021
Hereditary spastic paraplegia 1514Mar 5, 2021
Hereditary spastic paraplegia 171Feb 21, 2021
Hereditary spastic paraplegia 181Mar 5, 2021
Hereditary spastic paraplegia 24Feb 21, 2021
Hereditary spastic paraplegia 231Feb 21, 2021
Hereditary spastic paraplegia 261Feb 21, 2021
Hereditary spastic paraplegia 3010Mar 5, 2021
Hereditary spastic paraplegia 311Mar 5, 2021
Hereditary spastic paraplegia 353Mar 5, 2021
Hereditary spastic paraplegia 3A3Mar 14, 2019
Hereditary spastic paraplegia 43Feb 21, 2021
Hereditary spastic paraplegia 421Feb 21, 2021
Hereditary spastic paraplegia 431Feb 21, 2021
Hereditary spastic paraplegia 441Mar 5, 2021
Hereditary spastic paraplegia 451Feb 21, 2021
Hereditary spastic paraplegia 466Mar 5, 2021
Hereditary spastic paraplegia 476Mar 5, 2021
Hereditary spastic paraplegia 4811Mar 5, 2021
Hereditary spastic paraplegia 4910Mar 5, 2021
Hereditary spastic paraplegia 505Mar 5, 2021
Hereditary spastic paraplegia 512Feb 21, 2021
Hereditary spastic paraplegia 531Feb 21, 2021
Hereditary spastic paraplegia 542Mar 5, 2021
Hereditary spastic paraplegia 551Oct 16, 2017
Hereditary spastic paraplegia 563Mar 5, 2021
Hereditary spastic paraplegia 572Mar 5, 2021
Hereditary spastic paraplegia 5A1Oct 16, 2017
Hereditary spastic paraplegia 634Mar 5, 2021
Hereditary spastic paraplegia 641Feb 21, 2021
Hereditary spastic paraplegia 77Mar 5, 2021
Hereditary spastic paraplegia 722Feb 21, 2021
Hereditary spastic paraplegia 741Feb 21, 2021
Hereditary spastic paraplegia 752Feb 21, 2021
Hereditary spastic paraplegia 773Mar 5, 2021
Hereditary spastic paraplegia 82Feb 21, 2021
Hereditary spherocytosis type 12Feb 21, 2021
Hereditary spherocytosis type 21Feb 21, 2021
Hereditary spherocytosis type 33Mar 5, 2021
Hereditary spherocytosis type 41Feb 21, 2021
Hereditary xanthinuria type 11Feb 21, 2021
Hermansky-Pudlak syndrome 13Mar 5, 2021
Hermansky-Pudlak syndrome 61Feb 21, 2021
Hermansky-Pudlak syndrome 71Mar 5, 2021
Hermansky-Pudlak syndrome 81Mar 5, 2021
Hermansky-Pudlak syndrome 91Mar 5, 2021
Heterotaxy, visceral, 1, X-linked1Mar 5, 2021
Heterotaxy, visceral, 4, autosomal1Feb 21, 2021
Heterotaxy, visceral, 5, autosomal2Feb 21, 2021
Heterotaxy, visceral, 6, autosomal1Feb 21, 2021
Heterotaxy, visceral, 7, autosomal2Feb 21, 2021
Heterotaxy, visceral, 8, autosomal7Mar 5, 2021
Heterotopia, periventricular, X-linked dominant2Feb 21, 2021
High myopia-sensorineural deafness syndrome1Mar 5, 2021
Hirschsprung disease, susceptibility to, 11Feb 10, 2021
Histiocytic medullary reticulosis4Feb 21, 2021
Holoprosencephaly 12 with or without pancreatic agenesis1Feb 21, 2021
Holoprosencephaly 31Nov 14, 2016
Holoprosencephaly 71Feb 10, 2021
Holoprosencephaly 93Nov 14, 2016
Holt-Oram syndrome4Mar 5, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency3Mar 5, 2021
Hurler syndrome4Mar 5, 2021
Hutchinson-Gilford syndrome1Feb 21, 2021
Hyaline fibromatosis syndrome5Mar 5, 2021
Hydatidiform mole, recurrent, 11Feb 21, 2021
Hydrocephalus, congenital, 3, with brain anomalies2Mar 5, 2021
Hydrocephalus, nonsyndromic, autosomal recessive 14Mar 5, 2021
Hydrocephalus, nonsyndromic, autosomal recessive 213Mar 5, 2021
Hydrolethalus syndrome 21Feb 21, 2021
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome2Mar 5, 2021
Hyper-IgE recurrent infection syndrome 11Feb 21, 2021
Hyper-IgE recurrent infection syndrome 3, autosomal recessive2Feb 21, 2021
Hyper-IgE recurrent infection syndrome 4, autosomal recessive1Feb 21, 2021
Hyper-IgM syndrome type 31Feb 21, 2021
Hyper-IgM syndrome type 53Mar 5, 2021
Hyperaldosteronism, familial, type IV1Feb 21, 2021
Hyperbiliverdinemia1Feb 21, 2021
Hypercalcemia, infantile, 13Mar 5, 2021
Hypercalcemia, infantile, 21Feb 21, 2021
Hypercholanemia, familial 12Feb 21, 2021
Hypercholesterolemia, autosomal dominant, type B2Mar 5, 2021
Hypercholesterolemia, familial, 12Feb 21, 2021
Hyperekplexia 11Feb 21, 2021
Hyperekplexia 34Mar 5, 2021
Hyperimmunoglobulin D with periodic fever4Feb 21, 2021
Hyperinsulinemic hypoglycemia, familial, 12Mar 5, 2021
Hyperinsulinism due to INSR deficiency1Feb 21, 2021
Hyperinsulinism-hyperammonemia syndrome2Feb 21, 2021
Hyperkalemic periodic paralysis3Feb 21, 2021
Hyperlipidemia, familial combined, LPL related1Feb 21, 2021
Hyperlipoproteinemia, type 1D1Feb 21, 2021
Hyperlipoproteinemia, type I2Feb 21, 2021
Hyperlysinemia1Feb 21, 2021
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome4Mar 5, 2021
Hyperparathyroidism 11Mar 5, 2021
Hyperparathyroidism, transient neonatal2Feb 21, 2021
Hyperphosphatasia with intellectual disability syndrome 16Mar 5, 2021
Hyperphosphatasia with intellectual disability syndrome 24Mar 5, 2021
Hyperphosphatasia with intellectual disability syndrome 31Feb 21, 2021
Hyperphosphatasia with intellectual disability syndrome 44Mar 5, 2021
Hyperphosphatasia with intellectual disability syndrome 53Feb 21, 2021
Hyperphosphatasia with intellectual disability syndrome 63Mar 5, 2021
Hypertrichotic osteochondrodysplasia Cantu type2Mar 14, 2019
Hypertrophic cardiomyopathy 11Mar 14, 2019
Hypertrophic cardiomyopathy 121Feb 21, 2021
Hypertrophic cardiomyopathy 142Mar 5, 2021
Hypertrophic cardiomyopathy 172Mar 5, 2021
Hypertrophic cardiomyopathy 181Feb 21, 2021
Hypertrophic cardiomyopathy 201Mar 5, 2021
Hypertrophic cardiomyopathy 251Feb 21, 2021
Hypertrophic cardiomyopathy 263Mar 5, 2021
Hypertrophic cardiomyopathy 32Mar 5, 2021
Hypertrophic cardiomyopathy 41Feb 21, 2021
Hypertrophic cardiomyopathy 61Feb 10, 2021
Hypertrophic cardiomyopathy 73Mar 5, 2021
Hypertrophic cardiomyopathy 99Feb 21, 2021
Hypertrophic osteoarthropathy, primary, autosomal recessive, 21Mar 5, 2021
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1Mar 5, 2021
Hypoalphalipoproteinemia, primary, 13Mar 5, 2021
Hypochondroplasia1Mar 14, 2019
Hypogonadotropic hypogonadism 1 with or without anosmia2Feb 21, 2021
Hypogonadotropic hypogonadism 16 with or without anosmia1Apr 1, 2019
Hypogonadotropic hypogonadism 18 with or without anosmia1Feb 21, 2021
Hypogonadotropic hypogonadism 19 with or without anosmia2Mar 5, 2021
Hypogonadotropic hypogonadism 2 with or without anosmia1Mar 14, 2019
Hypogonadotropic hypogonadism 21 with or without anosmia1Feb 21, 2021
Hypogonadotropic hypogonadism 5 with or without anosmia7Mar 5, 2021
Hypogonadotropic hypogonadism 6 with or without anosmia1Mar 5, 2021
Hypogonadotropic hypogonadism 7 with or without anosmia2Mar 5, 2021
Hypogonadotropic hypogonadism 8 with or without anosmia1Feb 21, 2021
Hypohidrotic X-linked ectodermal dysplasia1Feb 21, 2021
Hypokalemic periodic paralysis, type 13Mar 5, 2021
Hypokalemic periodic paralysis, type 21Feb 21, 2021
Hypomyelinating leukodystrophy 102Mar 5, 2021
Hypomyelinating leukodystrophy 113Mar 5, 2021
Hypomyelinating leukodystrophy 126Mar 5, 2021
Hypomyelinating leukodystrophy 131Feb 21, 2021
Hypomyelinating leukodystrophy 21Oct 16, 2017
Hypomyelinating leukodystrophy 43Feb 21, 2021
Hypomyelinating leukodystrophy 63Mar 14, 2019
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism6Mar 5, 2021
Hypomyelinating leukodystrophy 98Mar 5, 2021
Hypomyelination and Congenital Cataract2Feb 21, 2021
Hypomyelination with brain stem and spinal cord involvement and leg spasticity4Mar 5, 2021
Hypoparathyroidism, deafness, renal disease syndrome1Mar 5, 2021
Hypophosphatemic nephrolithiasis/osteoporosis 21Oct 16, 2017
Hypophosphatemic rickets, X-linked recessive1Feb 21, 2021
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome3Mar 5, 2021
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration2Mar 5, 2021
Hypothyroidism, congenital, nongoitrous, 22Feb 21, 2021
Hypothyroidism, congenital, nongoitrous, 91Feb 21, 2021
Hypotonia2Nov 12, 2016
Hypotonia with lactic acidemia and hyperammonemia3Mar 5, 2021
Hypotonia, ataxia, and delayed development syndrome5Mar 5, 2021
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities1Feb 21, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 12Mar 5, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 232Mar 5, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 313Mar 5, 2021
Hypotrichosis 131Feb 21, 2021
Hypotrichosis 21Feb 21, 2021
Hypotrichosis 81Nov 14, 2016
Hypouricemia, renal, 21Nov 14, 2016
IFAP syndrome with or without BRESHECK syndrome1Feb 21, 2021
IL21-related infantile inflammatory bowel disease1Mar 5, 2021
IMAGe syndrome1Mar 5, 2021
Ichthyosis1Nov 14, 2016
Ichthyosis vulgaris16Mar 5, 2021
Ichthyosis, congenital, autosomal recessive 122Feb 21, 2021
IgA nephropathy, susceptibility to, 31Feb 21, 2021
Imerslund-Grasbeck syndrome type 17Mar 5, 2021
Immunodeficiency 1047Mar 5, 2021
Immunodeficiency 144Mar 5, 2021
Immunodeficiency 15a1Feb 21, 2021
Immunodeficiency 182Mar 5, 2021
Immunodeficiency 191Mar 5, 2021
Immunodeficiency 234Mar 5, 2021
Immunodeficiency 356Mar 5, 2021
Immunodeficiency 361Feb 21, 2021
Immunodeficiency 391Feb 21, 2021
Immunodeficiency 451Feb 21, 2021
Immunodeficiency 493Mar 5, 2021
Immunodeficiency 514Mar 5, 2021
Immunodeficiency 575Mar 5, 2021
Immunodeficiency 601Feb 21, 2021
Immunodeficiency 63 with lymphoproliferation and autoimmunity1Feb 21, 2021
Immunodeficiency 671Mar 5, 2021
Immunodeficiency due to CD25 deficiency3Mar 5, 2021
Immunodeficiency due to MASP-2 deficiency2Mar 5, 2021
Immunodeficiency due to ficolin3 deficiency1Feb 21, 2021
Immunodeficiency, common variable, 11Feb 21, 2021
Immunodeficiency, common variable, 102Feb 21, 2021
Immunodeficiency, common variable, 122Feb 21, 2021
Immunodeficiency, common variable, 143Mar 5, 2021
Immunodeficiency, common variable, 27Mar 5, 2021
Immunodeficiency, common variable, 32Mar 5, 2021
Immunodeficiency, common variable, 711Mar 5, 2021
Immunodeficiency, developmental delay, and hypohomocysteinemia1Mar 5, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Mar 5, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 23Mar 5, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 42Mar 5, 2021
Immunoglobulin A deficiency 23Mar 5, 2021
Immunoglobulin-mediated membranoproliferative glomerulonephritis2Mar 5, 2021
Immunoskeletal dysplasia with neurodevelopmental abnormalities1Mar 5, 2021
Infantile GM1 gangliosidosis7Mar 5, 2021
Infantile bilateral striatal necrosis1Feb 21, 2021
Infantile cerebellar-retinal degeneration6Mar 5, 2021
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly4Feb 21, 2021
Infantile convulsions and choreoathetosis2Feb 21, 2021
Infantile cortical hyperostosis3Feb 21, 2021
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1Feb 21, 2021
Infantile liver failure syndrome 15Feb 21, 2021
Infantile liver failure syndrome 26Mar 5, 2021
Infantile liver failure syndrome 31Feb 21, 2021
Infantile muscular hypotonia7Jun 19, 2015
Infantile nephronophthisis3Mar 5, 2021
Infantile neuroaxonal dystrophy14Oct 7, 2022
Infantile onset spinocerebellar ataxia4Mar 5, 2021
Infantile-onset X-linked spinal muscular atrophy1Mar 5, 2021
Infantile-onset periodic fever-panniculitis-dermatosis syndrome2Feb 21, 2021
Inflammatory bowel disease 12Mar 5, 2021
Inflammatory bowel disease 132Mar 5, 2021
Inflammatory bowel disease 253Mar 5, 2021
Inflammatory bowel disease 281Feb 21, 2021
Inflammatory bowel disease, immunodeficiency, and encephalopathy1Feb 21, 2021
Inflammatory skin and bowel disease, neonatal, 12Mar 5, 2021
Inflammatory skin and bowel disease, neonatal, 21Feb 10, 2021
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Mar 5, 2021
Insulin-resistant diabetes mellitus AND acanthosis nigricans1Mar 5, 2021
Intellectual developmental disorder 611Feb 21, 2021
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Feb 21, 2021
Intellectual developmental disorder with cardiac defects and dysmorphic facies8Feb 21, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities6Feb 21, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis8Mar 5, 2021
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies5Mar 5, 2021
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold3Mar 5, 2021
Intellectual developmental disorder with neuropsychiatric features9Mar 5, 2021
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia3Feb 21, 2021
Intellectual developmental disorder with short stature and behavioral abnormalities2Feb 21, 2021
Intellectual developmental disorder with short stature and variable skeletal anomalies1Feb 21, 2021
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies2Feb 21, 2021
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Feb 21, 2021
Intellectual developmental disorder, autosomal recessive 672Feb 21, 2021
Intellectual developmental disorder, autosomal recessive 685Feb 21, 2021
Intellectual developmental disorder, autosomal recessive 693Feb 21, 2021
Intellectual developmental disorder, autosomal recessive 701Feb 21, 2021
Intellectual disability31Jul 17, 2021
Intellectual disability, X-linked 15Mar 5, 2021
Intellectual disability, X-linked 1003Feb 21, 2021
Intellectual disability, X-linked 1011Feb 21, 2021
Intellectual disability, X-linked 10210Mar 5, 2021
Intellectual disability, X-linked 1032Feb 21, 2021
Intellectual disability, X-linked 1047Mar 5, 2021
Intellectual disability, X-linked 1052Feb 21, 2021
Intellectual disability, X-linked 1062Mar 5, 2021
Intellectual disability, X-linked 1072Feb 21, 2021
Intellectual disability, X-linked 301Mar 5, 2021
Intellectual disability, X-linked 462Feb 21, 2021
Intellectual disability, X-linked 492Feb 21, 2021
Intellectual disability, X-linked 611Feb 21, 2021
Intellectual disability, X-linked 901Feb 21, 2021
Intellectual disability, X-linked 912Mar 5, 2021
Intellectual disability, X-linked 935Feb 21, 2021
Intellectual disability, X-linked 961Feb 21, 2021
Intellectual disability, X-linked 973Feb 21, 2021
Intellectual disability, X-linked 9911Mar 5, 2021
Intellectual disability, X-linked 99, syndromic, female-restricted1Feb 21, 2021
Intellectual disability, X-linked syndromic, Turner type2Oct 16, 2017
Intellectual disability, X-linked, syndromic 334Feb 21, 2021
Intellectual disability, X-linked, syndromic, 352Mar 5, 2021
Intellectual disability, X-linked, syndromic, Houge type3Feb 21, 2021
Intellectual disability, X-linked, with or without seizures, arx-related1Feb 21, 2021
Intellectual disability, X-linked, with panhypopituitarism3Mar 5, 2021
Intellectual disability, anterior maxillary protrusion, and strabismus3Mar 5, 2021
Intellectual disability, autosomal dominant 110Mar 5, 2021
Intellectual disability, autosomal dominant 112Feb 21, 2021
Intellectual disability, autosomal dominant 136Mar 5, 2021
Intellectual disability, autosomal dominant 1419Mar 5, 2021
Intellectual disability, autosomal dominant 156Mar 5, 2021
Intellectual disability, autosomal dominant 1611Mar 5, 2021
Intellectual disability, autosomal dominant 203Mar 5, 2021
Intellectual disability, autosomal dominant 224Mar 5, 2021
Intellectual disability, autosomal dominant 246Feb 21, 2021
Intellectual disability, autosomal dominant 274Mar 5, 2021
Intellectual disability, autosomal dominant 299Mar 5, 2021
Intellectual disability, autosomal dominant 37Mar 5, 2021
Intellectual disability, autosomal dominant 304Mar 5, 2021
Intellectual disability, autosomal dominant 332Mar 5, 2021
Intellectual disability, autosomal dominant 383Mar 5, 2021
Intellectual disability, autosomal dominant 393Mar 5, 2021
Intellectual disability, autosomal dominant 41Mar 5, 2021
Intellectual disability, autosomal dominant 403Mar 5, 2021
Intellectual disability, autosomal dominant 413Feb 21, 2021
Intellectual disability, autosomal dominant 424Mar 5, 2021
Intellectual disability, autosomal dominant 4310Mar 5, 2021
Intellectual disability, autosomal dominant 4511Mar 5, 2021
Intellectual disability, autosomal dominant 463Mar 5, 2021
Intellectual disability, autosomal dominant 4715Mar 5, 2021
Intellectual disability, autosomal dominant 484Mar 5, 2021
Intellectual disability, autosomal dominant 523Mar 5, 2021
Intellectual disability, autosomal dominant 503Mar 5, 2021
Intellectual disability, autosomal dominant 512Mar 5, 2021
Intellectual disability, autosomal dominant 5213Mar 5, 2021
Intellectual disability, autosomal dominant 55, with seizures2Mar 5, 2021
Intellectual disability, autosomal dominant 562Feb 21, 2021
Intellectual disability, autosomal dominant 571Mar 14, 2019
Intellectual disability, autosomal dominant 582Feb 21, 2021
Intellectual disability, autosomal dominant 67Feb 21, 2021
Intellectual disability, autosomal dominant 88Mar 5, 2021
Intellectual disability, autosomal dominant 922Mar 5, 2021
Intellectual disability, autosomal recessive 18Mar 5, 2021
Intellectual disability, autosomal recessive 121Mar 5, 2021
Intellectual disability, autosomal recessive 1319Mar 5, 2021
Intellectual disability, autosomal recessive 142Mar 5, 2021
Intellectual disability, autosomal recessive 187Mar 5, 2021
Intellectual disability, autosomal recessive 25Mar 5, 2021
Intellectual disability, autosomal recessive 2711Mar 5, 2021
Intellectual disability, autosomal recessive 315Mar 5, 2021
Intellectual disability, autosomal recessive 344Mar 5, 2021
Intellectual disability, autosomal recessive 427Mar 5, 2021
Intellectual disability, autosomal recessive 435Mar 5, 2021
Intellectual disability, autosomal recessive 446Mar 5, 2021
Intellectual disability, autosomal recessive 454Mar 5, 2021
Intellectual disability, autosomal recessive 465Mar 5, 2021
Intellectual disability, autosomal recessive 4713Mar 5, 2021
Intellectual disability, autosomal recessive 56Mar 5, 2021
Intellectual disability, autosomal recessive 511Mar 5, 2021
Intellectual disability, autosomal recessive 524Mar 5, 2021
Intellectual disability, autosomal recessive 5324Mar 5, 2021
Intellectual disability, autosomal recessive 543Mar 5, 2021
Intellectual disability, autosomal recessive 565Mar 5, 2021
Intellectual disability, autosomal recessive 5712Mar 5, 2021
Intellectual disability, autosomal recessive 589Mar 5, 2021
Intellectual disability, autosomal recessive 593Mar 5, 2021
Intellectual disability, autosomal recessive 68Mar 5, 2021
Intellectual disability, autosomal recessive 601Feb 21, 2021
Intellectual disability, autosomal recessive 6116Mar 5, 2021
Intellectual disability, autosomal recessive 643Mar 5, 2021
Intellectual disability, autosomal recessive 655Mar 5, 2021
Intellectual disability, autosomal recessive 71Mar 5, 2021
Intellectual disability, mild2Aug 17, 2015
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome4Feb 21, 2021
Intellectual disability-epilepsy-extrapyramidal syndrome1Aug 21, 2017
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency16Mar 5, 2021
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome6Mar 5, 2021
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome8Mar 5, 2021
Intellectual disability-hypotonic facies syndrome, X-linked, 17Feb 21, 2021
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome4Mar 5, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome10Mar 5, 2021
Intellectual disability-severe speech delay-mild dysmorphism syndrome6Feb 21, 2021
Intellectual disability-strabismus syndrome7Mar 5, 2021
Interstitial lung disease 25Mar 5, 2021
Interstitial lung disease due to ABCA3 deficiency4Mar 5, 2021
Intestinal hypomagnesemia 13Mar 5, 2021
Intracerebral hemorrhage1Mar 5, 2021
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency2Dec 6, 2021
Iodotyrosyl coupling defect7Mar 5, 2021
Iris coloboma3Nov 15, 2017
Isolated focal cortical dysplasia type II4Mar 5, 2021
Isolated growth hormone deficiency type IB4Mar 5, 2021
Isolated hyperchlorhidrosis1Feb 21, 2021
Isolated microphthalmia 51Aug 17, 2015
Isovaleryl-CoA dehydrogenase deficiency17Feb 21, 2021
Jackson-Weiss syndrome2Feb 21, 2021
Jawad syndrome3Mar 5, 2021
Jervell and Lange-Nielsen syndrome 21Mar 5, 2021
Johanson-Blizzard syndrome3Feb 21, 2021
Joint laxity, short stature, and myopia4Mar 5, 2021
Joubert syndrome 14Mar 5, 2021
Joubert syndrome 103Mar 5, 2021
Joubert syndrome 133Mar 5, 2021
Joubert syndrome 143Mar 5, 2021
Joubert syndrome 153Mar 5, 2021
Joubert syndrome 1715Mar 5, 2021
Joubert syndrome 181Feb 21, 2021
Joubert syndrome 204Mar 5, 2021
Joubert syndrome 218Mar 5, 2021
Joubert syndrome 233Feb 21, 2021
Joubert syndrome 241Feb 21, 2021
Joubert syndrome 252Mar 5, 2021
Joubert syndrome 271Mar 5, 2021
Joubert syndrome 34Mar 5, 2021
Joubert syndrome 302Mar 5, 2021
Joubert syndrome 313Mar 5, 2021
Joubert syndrome 321Feb 10, 2021
Joubert syndrome 332Mar 5, 2021
Joubert syndrome 54Mar 5, 2021
Joubert syndrome 62Oct 16, 2017
Joubert syndrome 81Mar 5, 2021
Joubert syndrome 93Feb 21, 2021
Joubert syndrome with renal defect4Mar 5, 2021
Junctional epidermolysis bullosa gravis of Herlitz5Oct 7, 2022
Junctional epidermolysis bullosa with pyloric atresia3Feb 21, 2021
Junctional epidermolysis bullosa, non-Herlitz type4Mar 5, 2021
Juvenile arthritis due to defect in LACC11Feb 21, 2021
Juvenile myelomonocytic leukemia6Dec 6, 2021
Juvenile myoclonic epilepsy1Oct 16, 2017
Juvenile nephropathic cystinosis2Sep 27, 2019
Juvenile onset Parkinson disease 19A1Mar 5, 2021
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1Mar 5, 2021
Juvenile primary lateral sclerosis2Feb 21, 2021
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome1Feb 21, 2021
KBG syndrome44Mar 5, 2021
Kabuki syndrome 139Mar 5, 2021
Kabuki syndrome 25Mar 5, 2021
Kartagener syndrome1Mar 5, 2021
Karyomegalic interstitial nephritis1Mar 5, 2021
Keipert syndrome1Feb 21, 2021
Kennedy disease1Feb 21, 2021
Khan-Khan-Katsanis syndrome1Feb 21, 2021
Kleefstra syndrome 111Mar 5, 2021
Kleefstra syndrome 27Mar 5, 2021
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome9Mar 5, 2021
Klippel-Feil syndrome 1, autosomal dominant2Mar 5, 2021
Knobloch syndrome3Mar 5, 2021
Koolen-de Vries syndrome8Mar 5, 2021
Kostmann syndrome3Feb 21, 2021
Kufor-Rakeb syndrome7Mar 5, 2021
L-2-hydroxyglutaric aciduria4Mar 5, 2021
LAMB2-related infantile-onset nephrotic syndrome6Mar 5, 2021
LEOPARD syndrome 15Feb 11, 2022
LEOPARD syndrome 31Feb 21, 2021
LIPE-related familial partial lipodystrophy3Feb 21, 2021
Lafora disease3Mar 5, 2021
Lamb-Shaffer syndrome9Mar 5, 2021
Lambdoidal craniosynostosis2Feb 21, 2021
Landau-Kleffner syndrome12Mar 5, 2021
Langer mesomelic dysplasia syndrome2Mar 5, 2021
Larsen-like syndrome, B3GAT3 type2Feb 21, 2021
Laurence-Moon syndrome2Feb 21, 2021
Leber congenital amaurosis 11Feb 21, 2021
Leber congenital amaurosis 151Mar 5, 2021
Leber congenital amaurosis 21Feb 21, 2021
Leber congenital amaurosis 31Mar 5, 2021
Leber congenital amaurosis 51Mar 5, 2021
Leber congenital amaurosis 83Mar 5, 2021
Left ventricular noncompaction7Jun 19, 2015
Left ventricular noncompaction 11Mar 5, 2021
Left ventricular noncompaction 104Mar 5, 2021
Left ventricular noncompaction 22Feb 21, 2021
Left ventricular noncompaction 72Mar 5, 2021
Left ventricular noncompaction 81Feb 21, 2021
Legius syndrome3Mar 5, 2021
Leigh syndrome32Mar 5, 2021
Lenz-Majewski hyperostosis syndrome1Feb 21, 2021
Leri-Weill dyschondrosteosis1Nov 14, 2016
Lethal Kniest-like syndrome12Mar 5, 2021
Lethal arthrogryposis-anterior horn cell disease syndrome1Mar 5, 2021
Lethal congenital contracture syndrome 111Feb 21, 2021
Lethal congenital contracture syndrome 61Mar 5, 2021
Lethal congenital contracture syndrome 72Mar 5, 2021
Lethal congenital contracture syndrome 91Feb 21, 2021
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome3Mar 5, 2021
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome8Mar 5, 2021
Lethal multiple pterygium syndrome3Mar 5, 2021
Lethal occipital encephalocele-skeletal dysplasia syndrome1Feb 10, 2021
Lethal polymalformative syndrome, Boissel type1Feb 21, 2021
Lethal tight skin contracture syndrome3Feb 21, 2021
Leukocyte adhesion deficiency 11Mar 5, 2021
Leukocyte adhesion deficiency 32Feb 21, 2021
Leukocyte adhesion deficiency type II6Mar 5, 2021
Leukodystrophy and acquired microcephaly with or without dystonia;12Mar 5, 2021
Leukodystrophy, hypomyelinating, 141Feb 21, 2021
Leukodystrophy, hypomyelinating, 157Mar 5, 2021
Leukodystrophy, hypomyelinating, 162Feb 21, 2021
Leukoencephalopathy3Feb 21, 2020
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Mar 5, 2021
Leukoencephalopathy with mild cerebellar ataxia and white matter edema2Mar 5, 2021
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2Feb 21, 2021
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome14Mar 5, 2021
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome7Mar 5, 2021
Levy-Hollister syndrome1Mar 14, 2019
Li-Fraumeni syndrome 18Dec 6, 2021
Li-Fraumeni syndrome 211Feb 11, 2022
Linear skin defects with multiple congenital anomalies 21Feb 21, 2021
Lipase deficiency, combined3Feb 21, 2021
Lipid proteinosis1Feb 21, 2021
Lipoic acid synthetase deficiency3Feb 21, 2021
Lipoyl transferase 1 deficiency2Oct 16, 2017
Lissencephaly 43Mar 5, 2021
Lissencephaly 6 with microcephaly1Mar 5, 2021
Lissencephaly 82Mar 5, 2021
Lissencephaly 9 with complex brainstem malformation9Feb 21, 2021
Lissencephaly due to LIS1 mutation3Oct 16, 2017
Lissencephaly due to TUBA1A mutation8Mar 5, 2021
Lissencephaly type 1 due to doublecortin gene mutation2Feb 21, 2021
Loeys-Dietz syndrome 13Mar 5, 2021
Loeys-Dietz syndrome 24Feb 21, 2021
Loeys-Dietz syndrome 43Mar 5, 2021
Long QT syndrome 11Feb 21, 2021
Long QT syndrome 115Mar 5, 2021
Long QT syndrome 121Feb 21, 2021
Long QT syndrome 21Mar 5, 2021
Long QT syndrome 31Feb 21, 2021
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency4Mar 5, 2021
Lopes-Maciel-Rodan syndrome5Mar 5, 2021
Lowe syndrome1Oct 16, 2017
Lung cancer6Feb 10, 2021
Lung disease, immunodeficiency, and chromosome breakage syndrome;1Mar 5, 2021
Luscan-Lumish syndrome13Mar 5, 2021
Lymphangiomyomatosis3Mar 5, 2021
Lymphatic malformation 63Feb 21, 2021
Lymphoproliferative syndrome 12Feb 21, 2021
Lynch syndrome 12Dec 6, 2021
Lynch syndrome 46Dec 6, 2021
Lynch syndrome 57Dec 6, 2021
Lysinuric protein intolerance6Mar 5, 2021
MASA syndrome3Feb 21, 2021
MEGF10-Related Myopathy3Mar 5, 2021
MEGF8-related Carpenter syndrome10Mar 5, 2021
MEHMO syndrome1Mar 5, 2021
MGAT2-congenital disorder of glycosylation2Mar 5, 2021
MHC class I deficiency4Mar 5, 2021
MHC class II deficiency10Mar 5, 2021
MIRAGE syndrome3Feb 21, 2021
MOGS-congenital disorder of glycosylation3Mar 5, 2021
MPDU1-congenital disorder of glycosylation2Mar 5, 2021
MPI-congenital disorder of glycosylation5Mar 5, 2021
MYH7-related late-onset scapuloperoneal muscular dystrophy1Mar 14, 2019
MYH7-related skeletal myopathy1Mar 14, 2019
Macrocephaly, dysmorphic facies, and psychomotor retardation16Mar 5, 2021
Macrocephaly-autism syndrome5Feb 21, 2021
Macrocephaly-developmental delay syndrome4Mar 5, 2021
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome5Mar 5, 2021
Macrocephaly/megalencephaly syndrome, autosomal recessive1Mar 5, 2021
Macrocytic dyserythropoietic anemia2Aug 17, 2015
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Feb 21, 2021
Macrothrombocytopenia, isolated, 1, autosomal dominant2Mar 5, 2021
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Feb 21, 2021
Macular corneal dystrophy2Feb 21, 2021
Macular degeneration, age-related, 31Mar 14, 2019
Macular degeneration, early-onset1Feb 21, 2021
Macular dystrophy with central cone involvement1Mar 5, 2021
Malan overgrowth syndrome2Feb 21, 2021
Malignant eosinophil proliferation1Mar 5, 2021
Malignant hyperthermia, susceptibility to, 11Feb 21, 2021
Malignant tumor of esophagus1Mar 5, 2021
Mandibular hypoplasia-deafness-progeroid syndrome6Feb 11, 2022
Mandibuloacral dysplasia with type A lipodystrophy1Feb 21, 2021
Mandibulofacial dysostosis-microcephaly syndrome5Feb 21, 2021
Mannose-binding lectin deficiency1Feb 21, 2021
Maple syrup urine disease1Feb 21, 2021
Marden-Walker syndrome2Feb 21, 2021
Marfan syndrome10Mar 5, 2021
Marinesco-Sjögren syndrome5Mar 5, 2021
Martsolf syndrome3Mar 5, 2021
Mast syndrome1Feb 21, 2021
Matthew-Wood syndrome2Mar 5, 2021
Maturity-onset diabetes of the young type 11Mar 14, 2019
Maturity-onset diabetes of the young type 111Feb 21, 2021
Maturity-onset diabetes of the young type 71Feb 21, 2021
Maturity-onset diabetes of the young type 82Mar 5, 2021
McCune-Albright syndrome1Feb 21, 2021
Meckel syndrome, type 12Feb 21, 2021
Meckel syndrome, type 112Feb 21, 2021
Meckel syndrome, type 32Oct 16, 2017
Meckel syndrome, type 41Feb 21, 2021
Meckel syndrome, type 54Mar 5, 2021
Meckel syndrome, type 65Feb 21, 2021
Meckel syndrome, type 82Feb 21, 2021
Meckel syndrome, type 92Mar 5, 2021
Medium-chain acyl-coenzyme A dehydrogenase deficiency3Mar 5, 2021
Medulloblastoma1Dec 6, 2021
Meester-Loeys syndrome1Mar 5, 2021
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations2Feb 21, 2021
Megaconial type congenital muscular dystrophy2Feb 21, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 15Oct 7, 2022
Megalencephalic leukoencephalopathy with subcortical cysts 2A3Mar 5, 2021
Megalencephaly-capillary malformation-polymicrogyria syndrome2Feb 21, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12Mar 5, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32Mar 5, 2021
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1Mar 5, 2021
Meier-Gorlin syndrome3Jun 23, 2015
Meier-Gorlin syndrome 13Mar 5, 2021
Meier-Gorlin syndrome 31Mar 5, 2021
Meier-Gorlin syndrome 41Feb 21, 2021
Meier-Gorlin syndrome 72Mar 5, 2021
Meier-Gorlin syndrome 81Mar 5, 2021
Melanoma and neural system tumor syndrome3Dec 6, 2021
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency3Mar 5, 2021
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency3Mar 5, 2021
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency5Mar 5, 2021
Menke-Hennekam syndrome 14Feb 21, 2021
Menke-Hennekam syndrome 21Feb 21, 2021
Menkes kinky-hair syndrome5Feb 21, 2021
Merosin deficient congenital muscular dystrophy23Mar 5, 2021
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1Feb 21, 2021
Metachondromatosis1Mar 14, 2019
Metachromatic leukodystrophy12Mar 5, 2021
Metaphyseal anadysplasia 22Feb 21, 2021
Metaphyseal chondrodysplasia, Jansen type1Feb 21, 2021
Metaphyseal chondrodysplasia, Schmid type1Feb 21, 2021
Metaphyseal chondrodysplasia, Spahr type1Feb 21, 2021
Methylcobalamin deficiency type cblE2Mar 5, 2021
Methylcobalamin deficiency type cblG1Mar 5, 2021
Methylmalonate semialdehyde dehydrogenase deficiency1Mar 5, 2021
Methylmalonic acidemia with homocystinuria, type cblX6Mar 5, 2021
Methylmalonic aciduria and homocystinuria type cblD1Mar 5, 2021
Methylmalonic aciduria and homocystinuria type cblF3Mar 5, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5Mar 5, 2021
Methylmalonic aciduria, cblA type2Feb 21, 2021
Mevalonic aciduria3Feb 21, 2021
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Oct 7, 2022
Microcephalic osteodysplastic primordial dwarfism type II10Mar 5, 2021
Microcephalic primordial dwarfism due to RTTN deficiency11Mar 5, 2021
Microcephalic primordial dwarfism due to ZNF335 deficiency4Feb 21, 2021
Microcephalic primordial dwarfism, Alazami type1Feb 21, 2021
Microcephaly 1, primary, autosomal recessive6Mar 5, 2021
Microcephaly 11, primary, autosomal recessive2Mar 5, 2021
Microcephaly 13, primary, autosomal recessive4Mar 5, 2021
Microcephaly 15, primary, autosomal recessive1Feb 21, 2021
Microcephaly 16, primary, autosomal recessive2Feb 21, 2021
Microcephaly 17, primary, autosomal recessive7Mar 5, 2021
Microcephaly 18, primary, autosomal dominant7Mar 5, 2021
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations12Mar 5, 2021
Microcephaly 20, primary, autosomal recessive5Mar 5, 2021
Microcephaly 21, primary, autosomal recessive3Feb 21, 2021
Microcephaly 22, primary, autosomal recessive6Mar 5, 2021
Microcephaly 23, primary, autosomal recessive2Feb 21, 2021
Microcephaly 24, primary, autosomal recessive1Feb 21, 2021
Microcephaly 25, primary, autosomal recessive1Feb 21, 2021
Microcephaly 3, primary, autosomal recessive12Mar 5, 2021
Microcephaly 4, primary, autosomal recessive9Mar 5, 2021
Microcephaly 5, primary, autosomal recessive21Mar 5, 2021
Microcephaly 6, primary, autosomal recessive4Mar 5, 2021
Microcephaly 7, primary, autosomal recessive5Mar 5, 2021
Microcephaly 8, primary, autosomal recessive4Mar 5, 2021
Microcephaly 9, primary, autosomal recessive3Mar 5, 2021
Microcephaly and chorioretinopathy 111Mar 5, 2021
Microcephaly and chorioretinopathy 23Mar 5, 2021
Microcephaly and chorioretinopathy 32Feb 21, 2021
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability5Feb 21, 2021
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum2Feb 21, 2021
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1Feb 21, 2021
Microcephaly, growth deficiency, seizures, and brain malformations2Feb 21, 2021
Microcephaly, growth restriction, and increased sister chromatid exchange 21Feb 21, 2021
Microcephaly, normal intelligence and immunodeficiency6Oct 7, 2022
Microcephaly, short stature, and impaired glucose metabolism 12Feb 21, 2021
Microcephaly, short stature, and limb abnormalities3Mar 5, 2021
Microcephaly-capillary malformation syndrome5Mar 5, 2021
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome5Mar 5, 2021
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome7Mar 5, 2021
Microcephaly-thin corpus callosum-intellectual disability syndrome2Mar 5, 2021
Microcytic anemia2Feb 21, 2021
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome17Mar 5, 2021
Microphthalmia, isolated, with coloboma 31Feb 21, 2021
Microphthalmia, isolated, with coloboma 92Mar 5, 2021
Microphthalmia, syndromic 121Mar 14, 2019
Migraine, familial hemiplegic, 12Oct 16, 2017
Migraine, familial hemiplegic, 21Oct 16, 2017
Migraine, familial hemiplegic, 33Feb 21, 2021
Mild global developmental delay1Mar 19, 2021
Mirror movements 12Mar 5, 2021
Mitochondrial DNA deletion syndrome with progressive myopathy1Feb 21, 2021
Mitochondrial DNA depletion syndrome 13Feb 21, 2021
Mitochondrial DNA depletion syndrome 111Feb 21, 2021
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1Mar 5, 2021
Mitochondrial DNA depletion syndrome 1311Mar 5, 2021
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1Mar 5, 2021
Mitochondrial DNA depletion syndrome 31Feb 21, 2021
Mitochondrial DNA depletion syndrome 4b9Sep 27, 2019
Mitochondrial DNA depletion syndrome 8a5Mar 5, 2021
Mitochondrial DNA depletion syndrome 95Mar 5, 2021
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria3Feb 21, 2021
Mitochondrial DNA depletion syndrome, myopathic form3Feb 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 111Feb 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 141Feb 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 151Feb 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 162Oct 7, 2022
Mitochondrial complex 1 deficiency, nuclear type 171Feb 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 18