Nilou-Genome Lab, Nilou

General information

Nilou-Genome Lab, Nilou

No.4, 32nd st, Vali'asr Ave,Tehran, Iran
Tehran
Tehran
Iran - 1511945616
http://genome.niloulab.com/
Organization ID: 507598

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 11032

Gene

GeneSubmissionsLast Updated
AAAS7Aug 2, 2021
AAGAB1Aug 2, 2021
AARS12Aug 2, 2021
AARS218Aug 2, 2021
ABAT9Aug 2, 2021
ABCA16Aug 2, 2021
ABCA1234Aug 2, 2021
ABCA213Aug 2, 2021
ABCA36Aug 2, 2021
ABCA469Aug 4, 2021
ABCB1133Aug 30, 2021
ABCB411Aug 4, 2021
ABCB72Aug 4, 2021
ABCC25Aug 4, 2021
ABCC642Aug 4, 2021
ABCC83Aug 30, 2021
ABCC913Aug 4, 2021
ABCD15Aug 30, 2021
ABCD32Aug 4, 2021
ABCD45Aug 4, 2021
ABCG812Aug 4, 2021
ABHD127Aug 4, 2021
ACACA1May 19, 2021
ACAD914Aug 11, 2021
ACADM14Aug 11, 2021
ACADS4Aug 4, 2021
ACADSB4Aug 4, 2021
ACADVL21Aug 30, 2021
ACAN65Aug 4, 2021
ACAT113Aug 11, 2021
ACBD53Aug 4, 2021
ACE9Aug 4, 2021
ACO213Aug 4, 2021
ACOX114Aug 11, 2021
ACOX22Aug 4, 2021
ACP53Aug 4, 2021
ACSF337Aug 30, 2021
ACSL41Aug 4, 2021
ACTA13Aug 4, 2021
ACTB6Aug 4, 2021
ACTG112Aug 4, 2021
ACTG28Aug 4, 2021
ACTL6B2Aug 4, 2021
ACTN210Aug 4, 2021
ACTN42Aug 4, 2021
ACVR13Aug 4, 2021
ACVR2B3Aug 4, 2021
ACVRL12Aug 4, 2021
ACYP11Jun 8, 2021
ADA18Aug 30, 2021
ADAM177Aug 4, 2021
ADAM223Aug 4, 2021
ADAM92Aug 4, 2021
ADAMTS104Aug 4, 2021
ADAMTS1718Aug 4, 2021
ADAMTS229Aug 4, 2021
ADAMTS33Aug 4, 2021
ADAMTSL29Aug 4, 2021
ADAMTSL44Aug 4, 2021
ADAR10Aug 4, 2021
ADARB11Aug 4, 2021
ADAT31Aug 2, 2021
ADCY15Aug 4, 2021
ADCY511Aug 4, 2021
ADGRG113Aug 11, 2021
ADK1Aug 4, 2021
ADNP2Aug 4, 2021
ADSL1May 19, 2021
ADSS15Aug 4, 2021
AEBP15Aug 4, 2021
AFF25Aug 4, 2021
AFF41Aug 4, 2021
AFG3L215Aug 4, 2021
AGA9Aug 11, 2021
AGL8Aug 4, 2021
AGPAT23Aug 4, 2021
AGPS5Aug 11, 2021
AGRN19Aug 4, 2021
AGT2Aug 4, 2021
AGTR11Aug 4, 2021
AGXT15Jul 28, 2021
AHCY2Aug 4, 2021
AHDC12Aug 4, 2021
AHI14Aug 4, 2021
AHSG3Aug 4, 2021
AICDA4Aug 4, 2021
AIFM12Aug 4, 2021
AIRE11Aug 11, 2021
ALAS21May 18, 2021
ALDH18A128Aug 4, 2021
ALDH3A27Aug 4, 2021
ALDH4A114Aug 4, 2021
ALDH6A11Aug 4, 2021
ALDH7A13Aug 4, 2021
ALDOA1Aug 4, 2021
ALDOB11Aug 30, 2021
ALG110Aug 4, 2021
ALG111Aug 9, 2021
ALG67Jul 20, 2021
ALG86Aug 4, 2021
ALG94Aug 4, 2021
ALKBH85Aug 4, 2021
ALMS143Aug 30, 2021
ALOX12B3Aug 4, 2021
ALOXE35Aug 4, 2021
ALPL65Aug 30, 2021
ALS230Aug 4, 2021
ALX31Aug 4, 2021
ALX416Aug 4, 2021
AMACR12Aug 4, 2021
AMT4Aug 30, 2021
ANAPC17Aug 9, 2021
ANK110Aug 9, 2021
ANK313Aug 9, 2021
ANKH2Aug 9, 2021
ANKLE210Aug 9, 2021
ANKRD116Aug 9, 2021
ANKS64Aug 9, 2021
ANO105Aug 9, 2021
ANO515Aug 9, 2021
ANTXR14Aug 9, 2021
ANTXR24Aug 9, 2021
AOPEP2Jul 7, 2021
AP1B12Aug 9, 2021
AP1S11Aug 9, 2021
AP2M14Aug 9, 2021
AP2S11Aug 9, 2021
AP3B12Aug 9, 2021
AP4B13Aug 9, 2021
AP4B1-AS12Aug 9, 2021
AP4E14Aug 9, 2021
AP4M14Aug 9, 2021
AP4S14Aug 9, 2021
AP5Z15Aug 9, 2021
APC24Aug 2, 2021
APOB16Aug 9, 2021
APTX3Aug 9, 2021
AQP28Aug 30, 2021
AQP5-AS16Aug 9, 2021
AR1May 19, 2021
ARFGEF25Aug 9, 2021
ARG11Aug 9, 2021
ARHGAP314Aug 9, 2021
ARHGEF24Aug 9, 2021
ARID1B2Aug 9, 2021
ARL32Aug 9, 2021
ARMC92Aug 9, 2021
ARNT25Aug 9, 2021
ARSA13Aug 30, 2021
ARSB8Aug 30, 2021
ARSG3Aug 9, 2021
ARSL8Aug 9, 2021
ARV11Aug 9, 2021
ASAH142Aug 9, 2021
ASH1L2Aug 9, 2021
ASL17Aug 30, 2021
ASNS7Aug 11, 2021
ASPA5Aug 30, 2021
ASPH11Aug 9, 2021
ASPM14Aug 9, 2021
ASS120Aug 30, 2021
ASXL12Aug 9, 2021
ASXL36Aug 9, 2021
ATAD3A12Aug 2, 2021
ATCAY1Aug 9, 2021
ATF66Aug 9, 2021
ATIC8Aug 9, 2021
ATL18Aug 9, 2021
ATM47Aug 30, 2021
ATP13A216Aug 9, 2021
ATP1A210Aug 9, 2021
ATP1A36Aug 9, 2021
ATP2B310Aug 9, 2021
ATP6AP11Aug 9, 2021
ATP6AP22Aug 9, 2021
ATP6V0A214Aug 9, 2021
ATP6V0A47Aug 9, 2021
ATP6V1B114Aug 30, 2021
ATP6V1B1-AS11Jul 28, 2021
ATP6V1B22Aug 9, 2021
ATP7A12Aug 11, 2021
ATP7B42Aug 30, 2021
ATP8A27Aug 9, 2021
ATP8B120Aug 9, 2021
ATR4Aug 9, 2021
ATRX12Aug 11, 2021
AUH1Aug 9, 2021
AVIL3Aug 9, 2021
AVPR24Aug 9, 2021
AXDND15Jul 17, 2021
AXIN26Aug 9, 2021
B3GALNT22Aug 9, 2021
B3GAT31Aug 9, 2021
B3GLCT14Aug 9, 2021
B4GALT12Aug 9, 2021
B4GALT74Aug 9, 2021
B9D16Aug 9, 2021
B9D25Aug 9, 2021
BAAT4Aug 9, 2021
BACH22Aug 9, 2021
BAG33Aug 9, 2021
BBOF11Aug 4, 2021
BBS110Aug 11, 2021
BBS103Aug 30, 2021
BBS128Aug 11, 2021
BBS224Aug 30, 2021
BBS47Aug 9, 2021
BBS51Aug 9, 2021
BBS71Aug 9, 2021
BBS94Aug 9, 2021
BCKDHA16Aug 30, 2021
BCKDHB12Aug 11, 2021
BCOR4Aug 9, 2021
BCS1L15Aug 30, 2021
BDP112Aug 9, 2021
BEST120Aug 9, 2021
BFSP16Aug 9, 2021
BFSP23Aug 9, 2021
BFSP2-AS13Aug 9, 2021
BGN11Aug 9, 2021
BHLHA92Aug 2, 2021
BICD22Aug 9, 2021
BIN113Aug 9, 2021
BIVM-ERCC54Sep 11, 2021
BLK8Aug 9, 2021
BLM27Aug 30, 2021
BLNK3Aug 9, 2021
BLOC1S31Aug 9, 2021
BMP13Aug 9, 2021
BMP151Aug 9, 2021
BMP22Aug 9, 2021
BMP44Aug 9, 2021
BMPER3Aug 9, 2021
BMPR1A2Aug 9, 2021
BPTF1Aug 9, 2021
BRCA12Jul 6, 2021
BRPF11Aug 9, 2021
BRWD34Aug 9, 2021
BSCL216Aug 9, 2021
BSND7Aug 30, 2021
BTD12Aug 30, 2021
BTK8Aug 9, 2021
BUB1B4Aug 10, 2021
BVES3Aug 10, 2021
C10orf10519Aug 11, 2021
C11orf6517Aug 30, 2021
C12orf291Aug 30, 2021
C12orf572Aug 10, 2021
C17orf1073Jul 25, 2021
C19orf122Aug 10, 2021
C1QA1Aug 10, 2021
C1QTNF3-AMACR12Aug 4, 2021
C22Aug 23, 2021
C2CD32Aug 10, 2021
C346Aug 10, 2021
C9orf723Aug 10, 2021
CA22Aug 10, 2021
CA5A3Aug 10, 2021
CA84Aug 10, 2021
CABP21Aug 10, 2021
CABP43Aug 10, 2021
CACNA1A80Aug 10, 2021
CACNA1B3Aug 10, 2021
CACNA1C26Aug 10, 2021
CACNA1C-AS15Aug 10, 2021
CACNA1D22Aug 10, 2021
CACNA1E6Aug 10, 2021
CACNA1F15Aug 10, 2021
CACNA1G15Aug 10, 2021
CACNA1S14Aug 10, 2021
CACNA2D417Aug 2, 2021
CAD1Aug 10, 2021
CALCRL2Aug 10, 2021
CALCRL-AS12Aug 10, 2021
CALM12Aug 10, 2021
CALM22Aug 10, 2021
CALM32Aug 10, 2021
CAMK2A10Aug 10, 2021
CAMK2B10Aug 10, 2021
CAMK2G5Aug 10, 2021
CAMTA16Aug 10, 2021
CAPN17Aug 10, 2021
CAPN343Aug 30, 2021
CARD1121Aug 10, 2021
CARD1424Aug 10, 2021
CARD92Aug 10, 2021
CARS26Aug 10, 2021
CASP102Aug 10, 2021
CASQ25Aug 10, 2021
CASR15Aug 10, 2021
CAST3Aug 10, 2021
CATSPER12Aug 10, 2021
CAV13Aug 10, 2021
CBL2Aug 10, 2021
CBS11Aug 30, 2021
CC2D1A2Aug 10, 2021
CC2D2A26Aug 10, 2021
CCBE17Aug 10, 2021
CCDC1744Aug 10, 2021
CCDC223Aug 10, 2021
CCDC4013Aug 10, 2021
CCDC472Aug 10, 2021
CCDC5010Aug 10, 2021
CCDC654Aug 10, 2021
CCDC785Aug 2, 2021
CCDC88A5Aug 10, 2021
CCDC88C18Aug 10, 2021
CCND22Aug 10, 2021
CCND2-AS11Aug 10, 2021
CCNK1Aug 10, 2021
CCT515Aug 10, 2021
CD192Aug 10, 2021
CD2471Aug 10, 2021
CD272Aug 10, 2021
CD27-AS12Aug 10, 2021
CD47Aug 10, 2021
CD402Aug 10, 2021
CDC14A3Aug 10, 2021
CDCA72Aug 10, 2021
CDH112Aug 10, 2021
CDH118Aug 10, 2021
CDH153Aug 10, 2021
CDH23232Aug 30, 2021
CDH23-AS110Aug 10, 2021
CDH318Aug 10, 2021
CDHR14Aug 10, 2021
CDIN17Aug 10, 2021
CDK102Aug 10, 2021
CDK5RAP28Aug 10, 2021
CDK81Aug 23, 2021
CDKL52Aug 23, 2021
CDKN1B1Aug 23, 2021
CDKN1C2Aug 23, 2021
CDON6Aug 23, 2021
CDSN1Aug 23, 2021
CDT14Aug 23, 2021
CENPE4Aug 23, 2021
CENPF30Aug 23, 2021
CENPJ8Aug 23, 2021
CENPT3Aug 23, 2021
CEP10410Aug 23, 2021
CEP1204Aug 23, 2021
CEP1522Aug 23, 2021
CEP1648Aug 23, 2021
CEP29074Aug 30, 2021
CEP411Aug 23, 2021
CEP552Aug 23, 2021
CEP631Aug 23, 2021
CEP85L3Aug 23, 2021
CERKL10Aug 23, 2021
CERS35Aug 23, 2021
CERS3-AS12Aug 23, 2021
CFAP3002Aug 10, 2021
CFAP695Aug 10, 2021
CFB4Aug 23, 2021
CFH28Aug 23, 2021
CFI5Aug 23, 2021
CFTR201Sep 1, 2021
CFTR-AS128Sep 1, 2021
CHAT8Aug 23, 2021
CHCHD1012Aug 23, 2021
CHD210Aug 23, 2021
CHD33Aug 30, 2021
CHD43Aug 23, 2021
CHD710Aug 23, 2021
CHKB1Aug 23, 2021
CHKB-CPT1B1Aug 23, 2021
CHM1Jul 31, 2021
CHMP2B1Aug 23, 2021
CHN11Aug 23, 2021
CHRNA112Aug 23, 2021
CHRNA22Aug 23, 2021
CHRNA36Aug 23, 2021
CHRNA49Aug 23, 2021
CHRNB14Aug 23, 2021
CHRNE22Jul 25, 2021
CHSY13Aug 23, 2021
CIDEC1Aug 23, 2021
CIITA24Aug 11, 2021
CIT6Aug 23, 2021
CKAP2L2Aug 23, 2021
CLCN120Aug 23, 2021
CLCN733Aug 2, 2021
CLCNKA9Aug 23, 2021
CLCNKB48Aug 23, 2021
CLDN11Aug 23, 2021
CLDN142Aug 23, 2021
CLDN164Aug 23, 2021
CLN59Aug 30, 2021
CLN84Jul 31, 2021
CLPP2Sep 1, 2021
CLPX1Sep 1, 2021
CLRN12Aug 11, 2021
CLTC2Sep 1, 2021
CNBP1Sep 1, 2021
CNGA13Sep 1, 2021
CNGB112Sep 1, 2021
CNGB311Aug 11, 2021
CNNM24Sep 1, 2021
CNOT114Sep 1, 2021
CNTN11Sep 1, 2021
CNTN23Sep 1, 2021
CNTNAP16Sep 1, 2021
CNTNAP26Sep 1, 2021
COA62Sep 1, 2021
COA6-AS11Sep 1, 2021
COA81Aug 9, 2021
COASY4Sep 1, 2021
COCH4Sep 1, 2021
COG17Sep 1, 2021
COG48Sep 1, 2021
COG53Sep 1, 2021
COG66Sep 1, 2021
COL10A11Sep 1, 2021
COL11A157Sep 1, 2021
COL11A275Sep 1, 2021
COL12A112Sep 1, 2021
COL13A18Sep 1, 2021
COL17A128Sep 1, 2021
COL18A122Sep 1, 2021
COL1A145Sep 1, 2021
COL1A216Sep 1, 2021
COL27A144Aug 11, 2021
COL3A116Sep 1, 2021
COL4A120Sep 1, 2021
COL4A219Sep 1, 2021
COL4A2-AS14Sep 1, 2021
COL4A2-AS22Sep 1, 2021
COL4A373Sep 11, 2021
COL4A435Sep 11, 2021
COL4A516Sep 11, 2021
COL4A67Sep 11, 2021
COL5A126Sep 11, 2021
COL5A28Sep 11, 2021
COL6A126Sep 11, 2021
COL6A236Sep 11, 2021
COL6A330Sep 11, 2021
COL7A11Jun 1, 2021
COL8A24Sep 11, 2021
COL9A112Sep 11, 2021
COL9A36Sep 11, 2021
COLQ5Sep 11, 2021
COPB23Sep 11, 2021
COQ23Sep 11, 2021
COQ41Sep 11, 2021
COQ63Sep 11, 2021
COQ73Sep 11, 2021
COQ8A11Aug 4, 2021
COQ8B2Aug 4, 2021
CORO1A1Sep 11, 2021
CP6Sep 11, 2021
CPLANE12Aug 10, 2021
CPLX13Aug 2, 2021
CPS120Sep 11, 2021
CPT1A19Sep 11, 2021
CPT1C1Sep 11, 2021
CPT217Aug 30, 2021
CR26Sep 11, 2021
CRAT2Sep 11, 2021
CRB157Aug 30, 2021
CRB216Sep 11, 2021
CRBN3Sep 11, 2021
CREB3L12Sep 11, 2021
CRTAP3Sep 11, 2021
CRX1Aug 2, 2021
CRYAA1Sep 11, 2021
CRYAB3Sep 11, 2021
CRYBA42Sep 11, 2021
CRYBB23Sep 11, 2021
CRYBB32Sep 11, 2021
CRYGB2Sep 11, 2021
CRYGD4Sep 11, 2021
CRYM2Sep 11, 2021
CSF1R12Sep 11, 2021
CSF3R2Sep 11, 2021
CSGALNACT12Sep 11, 2021
CSNK2A11Aug 2, 2021
CTC15Sep 11, 2021
CTDP12Sep 11, 2021
CTNNA22Sep 11, 2021
CTNND11Sep 11, 2021
CTNS29Aug 30, 2021
CTPS12Sep 11, 2021
CTSA6Sep 11, 2021
CTSB2Sep 11, 2021
CTSD2Aug 2, 2021
CTSF3Sep 11, 2021
CTSK2Jul 17, 2021
CTU29Sep 11, 2021
CUBN28Sep 11, 2021
CUL72Sep 11, 2021
CUX110Sep 11, 2021
CUX22Sep 11, 2021
CWC276Sep 11, 2021
CYBA14Aug 30, 2021
CYBB2Jul 31, 2021
CYC13Sep 11, 2021
CYFIP26Sep 11, 2021
CYLD3Sep 11, 2021
CYP11B14Sep 11, 2021
CYP11B243Jul 7, 2021
CYP17A18Jul 14, 2021
CYP19A12Jul 13, 2021
CYP1B114Sep 11, 2021
CYP21A25Sep 11, 2021
CYP24A12Sep 11, 2021
CYP27A11Aug 30, 2021
CYP2U11Sep 11, 2021
CYP4F225Sep 11, 2021
CYP4V24Sep 11, 2021
CYP7B12Sep 11, 2021
CZ1P-ASNS7Aug 11, 2021
D2HGDH7Sep 11, 2021
DACT12Sep 11, 2021
DAG13Sep 11, 2021
DARS12Sep 11, 2021
DBH4Sep 11, 2021
DBH-AS11Sep 11, 2021
DBT1Sep 11, 2021
DCC12Sep 11, 2021
DCDC212Sep 11, 2021
DCHS16Sep 11, 2021
DCLRE1C22Sep 11, 2021
DCPS2Sep 11, 2021
DDB22Sep 11, 2021
DDC5Sep 11, 2021
DDHD16Sep 11, 2021
DDHD21Sep 11, 2021
DDOST4Sep 11, 2021
DDR28Sep 11, 2021
DDRGK11Sep 11, 2021
DDX1111Sep 11, 2021
DDX586Sep 11, 2021
DDX592Sep 11, 2021
DDX61Sep 11, 2021
DEAF116Aug 2, 2021
DENND5A3Sep 11, 2021
DEPDC52Sep 11, 2021
DES9Sep 11, 2021
DGKE2Sep 11, 2021
DGUOK3Sep 11, 2021
DGUOK-AS13Sep 11, 2021
DHCR242Sep 11, 2021
DHCR722Aug 30, 2021
DHDDS2Jul 17, 2021
DHODH3Sep 11, 2021
DHTKD118Sep 11, 2021
DHX3730Sep 11, 2021
DHX387Sep 11, 2021
DIAPH12Sep 11, 2021
DIAPH32Sep 11, 2021
DIAPH3-AS11Sep 11, 2021
DICER16Sep 11, 2021
DIP2B6Sep 11, 2021
DIS3L21Sep 11, 2021
DKC13Sep 11, 2021
DLAT5Sep 11, 2021
DLD9Aug 15, 2021
DLG44Sep 11, 2021
DLL35Sep 11, 2021
DLX36Sep 11, 2021
DMD43Sep 11, 2021
DMP13Sep 11, 2021
DMXL236Sep 11, 2021
DNA22Sep 11, 2021
DNAAF15Sep 11, 2021
DNAAF32Sep 11, 2021
DNAAF42Sep 11, 2021
DNAAF4-CCPG12Sep 11, 2021
DNAAF514Aug 2, 2021
DNAH16Sep 11, 2021
DNAH1128Sep 11, 2021
DNAH565Sep 11, 2021
DNAH913Sep 11, 2021
DNAI18Aug 30, 2021
DNAI217Aug 15, 2021
DNAJB131Sep 11, 2021
DNAJB23Sep 11, 2021
DNAJB61Sep 11, 2021
DNM11Sep 11, 2021
DNM1L12Sep 11, 2021
DNM23Sep 11, 2021
DNMBP6Sep 11, 2021
DNMBP-AS11Sep 11, 2021
DNMT112Sep 11, 2021
DNMT3B5Sep 11, 2021
DOCK28Sep 11, 2021
DOCK31Sep 11, 2021
DOCK69Sep 11, 2021
DOCK71Sep 11, 2021
DOCK827Sep 11, 2021
DOK76Sep 11, 2021
DPAGT12Sep 11, 2021
DPH13Aug 2, 2021
DPM22Sep 11, 2021
DRAM22Sep 11, 2021
DRC14Sep 11, 2021
DSE2Sep 11, 2021
DSG16Sep 11, 2021
DSG1-AS12Sep 11, 2021
DSP40Sep 11, 2021
DSPP12Sep 11, 2021
DST13Sep 11, 2021
DSTYK4Sep 11, 2021
DUSP61Sep 11, 2021
DVL15Aug 2, 2021
DYNC1H130Sep 11, 2021
DYNC2H114Sep 11, 2021
DYNC2LI11Sep 11, 2021
DYSF168Sep 11, 2021
DZIP1L4Sep 11, 2021
EARS27Sep 11, 2021
EBP2Sep 11, 2021
ECEL14Sep 11, 2021
ECHS14Sep 11, 2021
ECM12Sep 11, 2021
EDA4Sep 11, 2021
EDAR12Sep 11, 2021
EDARADD6Sep 11, 2021
EDN12Sep 11, 2021
EDNRA2Sep 11, 2021
EDNRB2Sep 11, 2021
EDNRB-AS12Sep 11, 2021
EED2Sep 11, 2021
EEF1A24Sep 11, 2021
EEF23Sep 11, 2021
EFEMP14Sep 11, 2021
EFEMP24Sep 11, 2021
EFL14Sep 11, 2021
EFNB11Sep 11, 2021
EFTUD23Sep 11, 2021
EGFR6Sep 11, 2021
EGFR-AS11Sep 11, 2021
EGR23Sep 11, 2021
EHMT13Sep 11, 2021
EIF2AK36Sep 11, 2021
EIF2AK47Sep 11, 2021
EIF2B42Sep 11, 2021
EIF2B56Aug 30, 2021
EIF2S31Sep 11, 2021
EIF3F2Sep 11, 2021
ELAC29Sep 11, 2021
ELMO21Sep 11, 2021
ELN3Sep 11, 2021
ELN-AS11Sep 11, 2021
ELOVL43Sep 11, 2021
ELP137Aug 30, 2021
ELP41Sep 11, 2021
EMC17Sep 11, 2021
EMC1-AS16Sep 11, 2021
EMD5Aug 15, 2021
EME21Aug 2, 2021
EMG11Sep 11, 2021
EML12Sep 11, 2021
EMP21Sep 11, 2021
ENO32Sep 11, 2021
ENPP16Sep 11, 2021
ENTPD11Sep 11, 2021
ENTPD1-AS11Sep 11, 2021
ENTPD53Sep 11, 2021
EOGT4Sep 11, 2021
EP30010Sep 11, 2021
EPCAM1Sep 11, 2021
EPG56Sep 11, 2021
EPHA24Sep 11, 2021
EPHB410Sep 11, 2021
EPM2A1Sep 11, 2021
EPM2A-DT1Sep 11, 2021
EPRS15Sep 11, 2021
EPS8L24Aug 2, 2021
ERAL11Sep 11, 2021
ERBB38Sep 11, 2021
ERBB43Sep 11, 2021
ERCC218Sep 11, 2021
ERCC415Sep 11, 2021
ERCC54Sep 11, 2021
ERCC629Sep 11, 2021
ERCC6-PGBD312Sep 11, 2021
ERCC6L22Sep 11, 2021
ERCC82Sep 11, 2021
ERLIN11Sep 11, 2021
ERMARD1May 18, 2021
ESCO25Jul 31, 2021
ESRP14Sep 11, 2021
ESRRB1Sep 11, 2021
ETFA5Jul 13, 2021
ETFB1Sep 11, 2021
ETFDH5Sep 11, 2021
ETHE15Aug 15, 2021
EVC36Sep 11, 2021
EVC24Sep 11, 2021
EYA41Aug 30, 2021
EYS63Aug 30, 2021
F119Aug 30, 2021
F11-AS15Jul 31, 2021
F92Aug 30, 2021
FA2H1Aug 30, 2021
FAH22Aug 30, 2021
FAM161A9Jul 28, 2021
FAM20C9Aug 2, 2021
FANCA49Aug 30, 2021
FANCC7Aug 15, 2021
FANCG13Aug 30, 2021
FBXL34Aug 30, 2021
FH4Jul 14, 2021
FKRP22Aug 30, 2021
FKTN23Aug 15, 2021
FTH14Aug 9, 2021
G6PC13Aug 30, 2021
G6PD1Aug 30, 2021
GAA183Aug 30, 2021
GALC43Aug 30, 2021
GALK110Aug 30, 2021
GALNS1Aug 2, 2021
GALT7Aug 30, 2021
GAMT3Jul 25, 2021
GAREM22Jun 20, 2021
GATAD110Aug 30, 2021
GBA20Aug 30, 2021
GBE117Aug 30, 2021
GCDH9Aug 15, 2021
GEMIN48Aug 2, 2021
GFER1Aug 2, 2021
GFM119Aug 30, 2021
GJB11Jun 8, 2021
GJB211Aug 30, 2021
GLA4Sep 1, 2021
GLB118Aug 30, 2021
GLDC11Jul 31, 2021
GLE110Jul 31, 2021
GNE7Jul 31, 2021
GNPTAB38Aug 30, 2021
GNPTG1Aug 30, 2021
GNS6Aug 30, 2021
GPHN2Aug 30, 2021
GPR191Aug 23, 2021
GREM21May 19, 2021
GRHPR11Aug 30, 2021
GSDME7Sep 11, 2021
HADHA14Aug 15, 2021
HAX12Jul 17, 2021
HBA-LCR5Aug 2, 2021
HBA22Aug 2, 2021
HBB18Aug 30, 2021
HEXA14Aug 30, 2021
HEXB10Aug 30, 2021
HGSNAT9Aug 15, 2021
HJV1Aug 15, 2021
HLCS11Aug 15, 2021
HMBS2Sep 11, 2021
HMGCL8Aug 30, 2021
HNF1A1May 19, 2021
HNRNPUL2-BSCL216Aug 9, 2021
HOGA14Jul 20, 2021
HPS114Jul 20, 2021
HPS315Aug 15, 2021
HS6ST11May 12, 2021
HSD17B428Aug 30, 2021
HSD3B22Aug 30, 2021
HYLS11Jul 20, 2021
IAH17Aug 4, 2021
IDUA43Aug 2, 2021
IFITM51Aug 2, 2021
IFT14024Aug 2, 2021
IGFALS1Aug 2, 2021
IL2RG7Aug 15, 2021
IL31RA1May 19, 2021
IL6ST1May 19, 2021
IMPG11May 19, 2021
INPP5K2Aug 2, 2021
INS4Aug 2, 2021
INS-IGF24Aug 2, 2021
INTS122Aug 2, 2021
IRF2BPL1May 19, 2021
IRF710Aug 2, 2021
ISG156Aug 2, 2021
ITGA41Jul 28, 2021
IVD10Aug 15, 2021
JMJD82Aug 2, 2021
KCNJ113Aug 30, 2021
KCNQ41May 18, 2021
KIRREL23Aug 20, 2021
KISS1R2Aug 2, 2021
KNL112Aug 10, 2021
KRT811May 12, 2021
KRT861May 12, 2021
LAMA376Aug 15, 2021
LAMB386Aug 15, 2021
LAMC231Aug 15, 2021
LBHD11Aug 10, 2021
LCA55Jul 31, 2021
LDLR37Aug 15, 2021
LDLRAP15Jul 17, 2021
LHX36Jul 31, 2021
LIFR9Jul 31, 2021
LIPA8Jul 20, 2021
LIX1L-AS11May 19, 2021
LOC1005055496Aug 9, 2021
LOC1005060712Sep 1, 2021
LOC1005074436Sep 11, 2021
LOC1014482024Sep 11, 2021
LOC1019271573Sep 1, 2021
LOC1019283711Sep 11, 2021
LOC1027240582Aug 30, 2021
LOC1053710468Aug 2, 2021
LOC1053722733Sep 11, 2021
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LOC10609906213Aug 30, 2021
LOC1065017129Aug 23, 2021
LOC10650171346Aug 23, 2021
LOC1065602112Aug 9, 2021
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LOC1067808005Sep 11, 2021
LOC1067998332Sep 11, 2021
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LOC1068046122Aug 2, 2021
LOC10713351018Aug 30, 2021
LOC1073033433Aug 4, 2021
LOC1086639854Aug 10, 2021
LOC1094336771Aug 9, 2021
LOC1100063196Aug 30, 2021
LOC1104087621Jul 14, 2021
LOC1111881542Sep 11, 2021
LOC1116744727Aug 30, 2021
LOC11167447510Sep 1, 2021
LOC1116744771Jul 7, 2021
LOC1119828691Jun 16, 2021
LOC1126947561Aug 4, 2021
LOC1129975401Sep 11, 2021
LOC1136641063Sep 1, 2021
LOC1171255941Jun 20, 2021
LOC1208931161Aug 4, 2021
LOXHD126Aug 30, 2021
LPIN21May 19, 2021
LPL8Aug 30, 2021
LRMDA3Aug 10, 2021
LRPPRC26Aug 20, 2021
LSS1May 19, 2021
MAN2B120Aug 30, 2021
MAPK8IP310Aug 2, 2021
MCCC18Aug 30, 2021
MCCC27Aug 30, 2021
MCOLN120Aug 20, 2021
MED176Jul 20, 2021
MED231Aug 9, 2021
MEFV50Aug 30, 2021
MESP22Jun 16, 2021
MFF-DT73Sep 11, 2021
MFSD81Jun 8, 2021
MIR4713HG2Jul 13, 2021
MIR68861Jun 20, 2021
MKS125Aug 30, 2021
MLC136Aug 30, 2021
MMAA6Aug 20, 2021
MMAB6Aug 30, 2021
MMACHC9Aug 30, 2021
MMUT7Aug 30, 2021
MPI4Jul 25, 2021
MPL3Aug 30, 2021
MPV172Jul 28, 2021
MRPS341Aug 2, 2021
MTHFR9Aug 30, 2021
MTM11Jul 31, 2021
MTRR1Jun 8, 2021
MTTP13Aug 20, 2021
MUC5B3May 18, 2021
MUC5B-AS11May 18, 2021
MYO7A205Aug 30, 2021
MYT1L4Aug 2, 2021
NAGLU6Aug 20, 2021
NAGS7Aug 20, 2021
NAXE8Aug 9, 2021
NBN22Aug 20, 2021
NDRG112Jul 31, 2021
NDUFAF54Jun 20, 2021
NDUFS65Aug 2, 2021
NDUFS73Aug 2, 2021
NEB137Aug 20, 2021
NEPRO2Aug 10, 2021
NME82May 19, 2021
NPC128Aug 30, 2021
NPC25Aug 30, 2021
NPHS128Aug 30, 2021
NPHS212Aug 30, 2021
NPRL35Aug 2, 2021
NR2E33Aug 20, 2021
NSDHL1May 18, 2021
NT5DC11Sep 1, 2021
NT5DC41Aug 23, 2021
NTRK116Aug 30, 2021
OAT7Aug 30, 2021
OCA21May 18, 2021
ODAD25Aug 9, 2021
OPA38Jun 20, 2021
OTC1Jun 15, 2021
OTOG3May 19, 2021
PAH24Aug 30, 2021
PCARE7Aug 10, 2021
PCCA13Aug 30, 2021
PCCB3Jul 31, 2021
PCDH1578Aug 30, 2021
PCNT1Aug 30, 2021
PDE6B4Aug 2, 2021
PDE6B-AS12Aug 2, 2021
PDHB4Aug 20, 2021
PEX141Aug 30, 2021
PEX1012Aug 20, 2021
PEX215Aug 20, 2021
PEX633Aug 20, 2021
PEX710Aug 20, 2021
PFKM6Aug 30, 2021
PGBD34Sep 11, 2021
PHGDH10Jul 17, 2021
PIEZO12Sep 11, 2021
PIGG2Aug 2, 2021
PIGQ18Aug 2, 2021
PINK12Sep 11, 2021
PIRC662Jul 13, 2021
PJVK2Sep 11, 2021
PKD13Aug 2, 2021
PKHD147Aug 30, 2021
PLCH21Jun 15, 2021
PLEKHG21Sep 11, 2021
PMM27Aug 30, 2021
PNPLA23Aug 2, 2021
POLR1C18Aug 2, 2021
POMGNT166Aug 30, 2021
PPP2R1A1Aug 30, 2021
PPT19Jul 17, 2021
PRDM162Aug 23, 2021
PROP13Jul 31, 2021
PSAP39Aug 23, 2021
PSORS1C11Aug 23, 2021
PSPH2May 12, 2021
PTS4Aug 30, 2021
PUS11Jul 20, 2021
PUS31Jul 20, 2021
PXDN9Aug 2, 2021
PYGM28Aug 23, 2021
PYY5Jul 25, 2021
RAB234Aug 30, 2021
RAB33A2Aug 4, 2021
RAG214Aug 30, 2021
RANBP212Sep 11, 2021
RAPSN12Aug 23, 2021
RARS214Aug 23, 2021
RBCK15Aug 2, 2021
RBM481Jul 7, 2021
RBM8A1May 19, 2021
RDH126Aug 30, 2021
REEP67Aug 2, 2021
RIF128Jul 25, 2021
RNF174Aug 23, 2021
RPE6518Sep 1, 2021
RPGRIP1L25Jul 25, 2021
RPL36A-HNRNPH24Sep 1, 2021
RS11Jun 16, 2021
RTEL142Jul 28, 2021
RTEL1-TNFRSF6B42Jul 28, 2021
RTTN1May 19, 2021
SACS45Sep 1, 2021
SAMHD14Jul 28, 2021
SARM11May 17, 2021
SBF13May 19, 2021
SCAMP41Aug 2, 2021
SCN1A2Aug 30, 2021
SCO27Jul 31, 2021
SDHA12Aug 2, 2021
SEPSECS3Aug 23, 2021
SGCA19Sep 1, 2021
SGCB3Aug 23, 2021
SGCG8Aug 23, 2021
SGSH16Aug 10, 2021
SH2D2A3Jul 17, 2021
SKI2Aug 2, 2021
SLC12A322Aug 23, 2021
SLC12A618Aug 23, 2021
SLC12A92Sep 11, 2021
SLC17A530Aug 23, 2021
SLC19A16Sep 1, 2021
SLC22A58Sep 1, 2021
SLC25A1311Aug 23, 2021
SLC25A154Jul 20, 2021
SLC26A16Aug 2, 2021
SLC26A229Sep 1, 2021
SLC26A419Sep 1, 2021
SLC35A11Jul 31, 2021
SLC35A32Jul 31, 2021
SLC37A421Aug 23, 2021
SLC39A412Aug 23, 2021
SLC39A81Aug 30, 2021
SLC45A26Aug 4, 2021
SLC4A1145Aug 23, 2021
SLC52A316Aug 2, 2021
SLC6A196Aug 2, 2021
SLC6A32Aug 2, 2021
SLC6A82Jul 31, 2021
SLC7A78Aug 23, 2021
SLC9A37Aug 2, 2021
SLC9A3-AS12Aug 2, 2021
SMARCA26Aug 2, 2021
SMARCAL110Jul 28, 2021
SMPD123Sep 1, 2021
SNHG316Aug 2, 2021
SPATA225Aug 30, 2021
SPG111Aug 30, 2021
STAG21May 12, 2021
STAR3Aug 23, 2021
STEEP12Sep 11, 2021
STUB12Aug 2, 2021
SULT2B11May 19, 2021
SUMF11Aug 23, 2021
SUV39H22Sep 11, 2021
SYCE22Jun 16, 2021
TAF1C1Sep 11, 2021
TBC1D203Aug 2, 2021
TCF32Aug 2, 2021
TCIRG17Aug 23, 2021
TECPR211Jul 20, 2021
TELO28Aug 2, 2021
TERT2Aug 2, 2021
TFR22Aug 23, 2021
TGM13Aug 30, 2021
TH22Sep 1, 2021
THOC21May 19, 2021
TKFC5Sep 11, 2021
TMC11Sep 11, 2021
TMC81May 19, 2021
TMEM2166Jul 20, 2021
TMPRSS31Jun 9, 2021
TMX2-CTNND11Sep 11, 2021
TNFRSF41Aug 2, 2021
TNIK2May 19, 2021
TNNI22Aug 2, 2021
TNNI32Sep 11, 2021
TNNT36Aug 2, 2021
TP532Aug 24, 2021
TP53RK1Aug 30, 2021
TPP117Aug 23, 2021
TRAIP1May 19, 2021
TRAPPC141Aug 10, 2021
TRMU2Jul 31, 2021
TSC23Aug 2, 2021
TSFM5Sep 1, 2021
TSPAN159Aug 30, 2021
TSR21May 17, 2021
TTPA1Jul 31, 2021
TUBB63Aug 4, 2021
TUBB812Jul 31, 2021
TYK21May 18, 2021
TYMP6Jul 31, 2021
TYR73Sep 1, 2021
UQCC31Aug 10, 2021
USH1C72Aug 23, 2021
USH2A147Sep 1, 2021
USH2A-AS117Sep 1, 2021
USH2A-AS210Sep 1, 2021
VCP2Jul 7, 2021
VPS13A36Aug 23, 2021
VPS13B48Sep 1, 2021
VPS5313Aug 2, 2021
VRK14Jul 20, 2021
VSX26Jul 20, 2021
WBP21Aug 30, 2021
WDR371Aug 2, 2021
WDR8116Aug 2, 2021
WHRN11Sep 11, 2021
WNK118Aug 2, 2021
WNT10A5Sep 1, 2021
YARS26Sep 11, 2021
ZC3H12C1Aug 15, 2021
ZDHHC246Aug 9, 2021
ZIC21Aug 30, 2021
ZMYND114Aug 2, 2021
ZNF1411Aug 2, 2021
ZNF2768Aug 30, 2021
ZNF4691May 18, 2021
ZNF6273Aug 4, 2021

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria9Sep 11, 2021
3 Methylcrotonyl-CoA carboxylase 1 deficiency8Aug 30, 2021
3 beta-Hydroxysteroid dehydrogenase deficiency2Aug 30, 2021
3-Methylglutaconic aciduria type 11Aug 9, 2021
3-Methylglutaconic aciduria type 34Jun 20, 2021
3-methylcrotonyl CoA carboxylase 2 deficiency7Aug 30, 2021
ABCD syndrome1Sep 11, 2021
ACTH resistance2Sep 21, 2021
AICAR transformylase/IMP cyclohydrolase deficiency8Aug 9, 2021
ALG1-CDG10Aug 4, 2021
ALG8-CDG6Aug 4, 2021
ALG9 congenital disorder of glycosylation2Aug 4, 2021
ARTHROGRYPOSIS MULTIPLEX CONGENITA 663Aug 20, 2021
Aarskog syndrome2Sep 21, 2021
Abetalipoproteinaemia13Aug 20, 2021
Acetyl-CoA: carboxylase deficiency1May 19, 2021
Achondrogenesis, type IB8Sep 1, 2021
Achromatopsia 311Aug 11, 2021
Achromatopsia 42Sep 21, 2021
Achromatopsia 76Aug 9, 2021
Acid-labile subunit deficiency1Aug 2, 2021
Acontractile detrusor6Aug 23, 2021
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins2Jul 31, 2021
Acute intermittent porphyria1Sep 21, 2021
Acyl-CoA dehydrogenase family, member 9, deficiency of14Aug 11, 2021
Adams-Oliver syndrome 14Aug 9, 2021
Adams-Oliver syndrome 29Sep 11, 2021
Adams-Oliver syndrome 44Sep 11, 2021
Adenosine kinase deficiency1Aug 4, 2021
Adenylosuccinate lyase deficiency1May 19, 2021
Adrenocortical carcinoma, hereditary1Apr 28, 2021
Adrenoleukodystrophy5Aug 30, 2021
Adult hypophosphatasia20Aug 11, 2021
Adult polyglucosan body disease9Sep 21, 2021
Afibrinogenemia, congenital4Sep 21, 2021
Agammaglobulinemia 4, autosomal recessive3Aug 9, 2021
Agammaglobulinemia 8, autosomal dominant2Aug 2, 2021
Age-related macular degeneration 217Aug 4, 2021
Age-related macular degeneration 31Sep 21, 2021
Age-related macular degeneration 47Aug 23, 2021
Age-related macular degeneration 923Aug 10, 2021
Agenesis of the corpus callosum with peripheral neuropathy18Aug 23, 2021
Aicardi Goutieres syndrome 52Jul 28, 2021
Aicardi-Goutieres syndrome 65Aug 4, 2021
Aicardi-Goutieres syndrome 72Sep 21, 2021
Al Kaissi syndrome2Aug 10, 2021
Al-Raqad syndrome2Sep 11, 2021
Alacrima, achalasia, and mental retardation syndrome2Sep 21, 2021
Albinism, oculocutaneous, type VII3Aug 10, 2021
Alkaptonuria2Sep 21, 2021
Alopecia universalis congenita3Sep 21, 2021
Alopecia-intellectual disability syndrome 13Aug 4, 2021
Alopecia-intellectual disability syndrome 41May 19, 2021
Alpha thalassemia-X-linked intellectual disability syndrome6Aug 11, 2021
Alpha-B crystallinopathy1Sep 11, 2021
Alpha-methylacyl-CoA racemase deficiency6Aug 4, 2021
Alport syndrome 1, X-linked recessive17Sep 11, 2021
Alport syndrome 3, autosomal dominant15Sep 11, 2021
Alport syndrome, autosomal recessive93Sep 11, 2021
Alstrom syndrome43Aug 30, 2021
Alternating hemiplegia of childhood 110Aug 9, 2021
Alternating hemiplegia of childhood 22Aug 9, 2021
Amelogenesis imperfecta type 1G2Sep 21, 2021
Amelogenesis imperfecta, hypocalcification type3Sep 21, 2021
Amelogenesis imperfecta, type IA23Jul 17, 2021
Amelogenesis imperfecta, type IV3Sep 11, 2021
Amyloidosis, primary localized cutaneous, 21May 19, 2021
Amyotrophic lateral sclerosis 171Aug 23, 2021
Amyotrophic lateral sclerosis 193Sep 11, 2021
Amyotrophic lateral sclerosis and/or frontotemporal dementia 13Aug 10, 2021
Amyotrophic lateral sclerosis type 116Sep 21, 2021
Amyotrophic lateral sclerosis type 2, juvenile10Aug 4, 2021
Anauxetic dysplasia 32Aug 10, 2021
Androgen resistance syndrome1May 19, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Aug 30, 2021
Anemia, sideroblastic, 11May 18, 2021
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps10Sep 1, 2021
Aniridia 21Sep 11, 2021
Anterior segment dysgenesis 31Sep 21, 2021
Anterior segment dysgenesis 66Sep 11, 2021
Anterior segment dysgenesis 79Aug 2, 2021
Apparent mineralocorticoid excess2Sep 21, 2021
Arginase deficiency1Aug 9, 2021
Arginine:glycine amidinotransferase deficiency2Sep 21, 2021
Argininosuccinate lyase deficiency17Aug 30, 2021
Aromatase excess syndrome2Jul 13, 2021
Arterial calcification, generalized, of infancy, 12Sep 11, 2021
Arthrogryposis, distal, type 2B26Aug 2, 2021
Arthrogryposis, mental retardation, and seizures2Jul 31, 2021
Asparagine synthetase deficiency7Aug 11, 2021
Aspartylglucosaminuria9Aug 11, 2021
Ataxia-oculomotor apraxia type 13Aug 9, 2021
Ataxia-telangiectasia syndrome47Aug 30, 2021
Atelosteogenesis type II7Sep 1, 2021
Atrichia with papular lesions3Sep 21, 2021
Atypical hemolytic-uremic syndrome 17Aug 23, 2021
Atypical hemolytic-uremic syndrome 42Aug 23, 2021
Auditory neuropathy, autosomal dominant, 12Sep 11, 2021
Auditory neuropathy-optic atrophy syndrome1Sep 21, 2021
Auriculocondylar syndrome 32Sep 11, 2021
Autoimmune lymphoproliferative syndrome2Sep 21, 2021
Autoimmune lymphoproliferative syndrome, type 2A2Aug 10, 2021
Autosomal dominant nonsyndromic deafness 2A1May 18, 2021
Autosomal dominant osteopetrosis 211Aug 2, 2021
Autosomal recessive DOPA responsive dystonia18Sep 1, 2021
Autosomal recessive congenital ichthyosis 13Aug 30, 2021
Autosomal recessive congenital ichthyosis 23Aug 4, 2021
Autosomal recessive congenital ichthyosis 35Aug 4, 2021
Autosomal recessive congenital ichthyosis 4A17Aug 2, 2021
Autosomal recessive congenital ichthyosis 4B17Aug 2, 2021
Autosomal recessive congenital ichthyosis 55Sep 11, 2021
Autosomal recessive congenital ichthyosis 95Aug 23, 2021
Autosomal recessive cutis laxa type 1B4Sep 11, 2021
Autosomal recessive cutis laxa type IA1Sep 21, 2021
Autosomal recessive hypophosphatemic vitamin D refractory rickets3Sep 11, 2021
Autosomal recessive keratitis-ichthyosis-deafness syndrome2Aug 9, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2B40Sep 11, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2D19Sep 1, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2E3Aug 23, 2021
Autosomal recessive omodysplasia1Sep 21, 2021
Autosomal recessive osteopetrosis 17Aug 23, 2021
Autosomal recessive osteopetrosis 411Aug 2, 2021
Axenfeld-Rieger syndrome type 31Sep 21, 2021
B-cell expansion with NFKB and T-cell anergy7Aug 10, 2021
B4GALT1-CDG2Aug 9, 2021
BH4-deficient hyperphenylalaninemia A4Aug 30, 2021
BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME3Aug 2, 2021
Bainbridge-Ropers syndrome6Aug 9, 2021
Band heterotopia2Sep 11, 2021
Baraitser-Winter Syndrome 26Aug 4, 2021
Baraitser-Winter syndrome 13Aug 4, 2021
Bardet-Biedl syndrome 110Aug 11, 2021
Bardet-Biedl syndrome 103Aug 30, 2021
Bardet-Biedl syndrome 128Aug 11, 2021
Bardet-Biedl syndrome 1310Aug 20, 2021
Bardet-Biedl syndrome 1416Aug 23, 2021
Bardet-Biedl syndrome 191Sep 21, 2021
Bardet-Biedl syndrome 213Aug 30, 2021
Bardet-Biedl syndrome 203Sep 21, 2021
Bardet-Biedl syndrome 47Aug 9, 2021
Bardet-Biedl syndrome 51Aug 9, 2021
Bardet-Biedl syndrome 71Aug 9, 2021
Bardet-Biedl syndrome 94Aug 9, 2021
Bare lymphocyte syndrome 224Aug 11, 2021
Bartter disease type 4a7Aug 30, 2021
Bartter syndrome type 324Aug 23, 2021
Bartter syndrome, type 4b33Aug 23, 2021
Basal laminar drusen7Aug 23, 2021
Beaded hair1May 12, 2021
Beckwith-Wiedemann syndrome1Aug 23, 2021
Benign recurrent intrahepatic cholestasis type 217Aug 30, 2021
Bestrophinopathy, autosomal recessive5Aug 9, 2021
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Sep 21, 2021
Bethlem myopathy 135Sep 11, 2021
Bethlem myopathy 26Sep 1, 2021
Bietti crystalline corneoretinal dystrophy4Sep 11, 2021
Bifunctional peroxisomal enzyme deficiency15Aug 30, 2021
Bile acid conjugation defect 12Aug 9, 2021
Bile acid synthesis defect, congenital, 31Sep 11, 2021
Bile acid synthesis defect, congenital, 52Aug 4, 2021
Bile acid synthesis defect, congenital, 62Aug 4, 2021
Biotinidase deficiency12Aug 30, 2021
Blepharocheilodontic syndrome 13Aug 10, 2021
Blepharocheilodontic syndrome 21Sep 11, 2021
Bloom syndrome27Aug 30, 2021
Bohring-Opitz syndrome2Aug 9, 2021
Bone marrow failure syndrome 22Sep 11, 2021
Bowen-Conradi syndrome1Sep 11, 2021
Brachydactyly type D1Sep 21, 2021
Brachydactyly type E11Sep 21, 2021
Brain abnormalities, neurodegeneration, and dysosteosclerosis6Sep 11, 2021
Brain small vessel disease 1 with or without ocular anomalies10Sep 1, 2021
Branchiootic syndrome 15Sep 21, 2021
Branchiootorenal Syndrome 15Sep 21, 2021
Breast-ovarian cancer, familial 12Jul 6, 2021
Brittle cornea syndrome 11May 18, 2021
Brooke-Spiegler syndrome1Sep 11, 2021
Brown-Vialetto-Van Laere syndrome 18Aug 2, 2021
C1q deficiency1Aug 10, 2021
CARASIL syndrome3Sep 21, 2021
CHARGE association5Aug 23, 2021
CK syndrome1May 18, 2021
COG1 congenital disorder of glycosylation7Sep 1, 2021
Camptosynpolydactyly, complex1Aug 2, 2021
Candidiasis, familial, 22Aug 10, 2021
Capillary malformation-arteriovenous malformation 25Sep 11, 2021
Carbonic anhydrase VA deficiency, hyperammonemia due to3Aug 10, 2021
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency3Jul 31, 2021
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 42Sep 1, 2021
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis8Sep 11, 2021
Carnitine palmitoyltransferase 1A deficiency19Sep 11, 2021
Carnitine palmitoyltransferase II deficiency, infantile8Aug 30, 2021
Carnitine palmitoyltransferase II deficiency, lethal neonatal7Aug 15, 2021
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced2Aug 15, 2021
Carpenter syndrome 14Aug 30, 2021
Cataract 12, multiple types3Aug 9, 2021
Cataract 13 with adult i phenotype1Sep 21, 2021
Cataract 16, multiple types1Sep 11, 2021
Cataract 1813Sep 21, 2021
Cataract 23, multiple types2Sep 11, 2021
Cataract 3, multiple types3Sep 11, 2021
Cataract 33, multiple types6Aug 9, 2021
Cataract 39, multiple types2Sep 11, 2021
Cataract 44Sep 11, 2021
Cataract 486Sep 11, 2021
Cataract 6, multiple types4Sep 11, 2021
Cataract, autosomal dominant1Sep 11, 2021
Cataract, congenital nuclear, autosomal recessive 22Sep 11, 2021
Cerebellar ataxia, Cayman type1Aug 9, 2021
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant6Sep 11, 2021
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 28Aug 2, 2021
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 34Aug 10, 2021
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 47Aug 9, 2021
Cerebellar ataxia, nonprogressive, with mental retardation6Aug 10, 2021
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Aug 9, 2021
Cerebellar atrophy, visual impairment, and psychomotor retardation7Sep 11, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 23Sep 21, 2021
Cerebrooculofacioskeletal syndrome 18Sep 11, 2021
Cerebrooculofacioskeletal syndrome 26Sep 11, 2021
Cerebrooculofacioskeletal syndrome 32Sep 11, 2021
Cerebroretinal microangiopathy with calcifications and cysts 15Sep 11, 2021
Ceroid lipofuscinosis neuronal 210Aug 23, 2021
Ceroid lipofuscinosis, neuronal, 111Sep 21, 2021
Ceroid lipofuscinosis, neuronal, 133Sep 11, 2021
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant2Jul 31, 2021
Charcot-Marie-Tooth Neuropathy X Type 11Jun 8, 2021
Charcot-Marie-Tooth disease axonal type 2K2Sep 21, 2021
Charcot-Marie-Tooth disease type 2D3Sep 21, 2021
Charcot-Marie-Tooth disease, axonal type 2V3Aug 20, 2021
Charcot-Marie-Tooth disease, axonal, type 2EE1Jul 28, 2021
Charcot-Marie-Tooth disease, axonal, type 2O10Sep 11, 2021
Charcot-Marie-Tooth disease, axonal, type 2Q9Sep 11, 2021
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive2Sep 21, 2021
Charcot-Marie-Tooth disease, demyelinating, type 1d1Sep 11, 2021
Charcot-Marie-Tooth disease, dominant intermediate B1Sep 11, 2021
Charcot-Marie-Tooth disease, dominant intermediate F1Sep 21, 2021
Charcot-Marie-Tooth disease, recessive intermediate A2Sep 21, 2021
Charcot-Marie-Tooth disease, type 2N1Aug 2, 2021
Charcot-Marie-Tooth disease, type 4A2Sep 21, 2021
Charcot-Marie-Tooth disease, type 4B33May 19, 2021
Charcot-Marie-Tooth disease, type 4D12Jul 31, 2021
Charcot-Marie-Tooth disease, type 4H6Sep 21, 2021
Charcot-Marie-Tooth disease, type 4J6Sep 21, 2021
Charlevoix-Saguenay spastic ataxia43Sep 1, 2021
Chilblain lupus 22Jul 28, 2021
Childhood hypophosphatasia23Aug 30, 2021
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia7Aug 23, 2021
Cholestanol storage disease1Aug 30, 2021
Cholestasis of pregnancy10Aug 9, 2021
Cholestasis, intrahepatic, of pregnancy 35Aug 4, 2021
Cholestasis, progressive familial intrahepatic 110Aug 9, 2021
Cholesterol monooxygenase (side-chain cleaving) deficiency3Aug 23, 2021
Chondrodysplasia punctata 2 X-linked dominant1Sep 11, 2021
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2Sep 21, 2021
Chops syndrome1Aug 4, 2021
Chorea, childhood-onset, with psychomotor retardation1Sep 21, 2021
Choreoacanthocytosis36Aug 23, 2021
Choroidal dystrophy, central areolar 12Sep 21, 2021
Choroideremia1Jul 31, 2021
Chronic granulomatous disease, X-linked2Jul 31, 2021
Chudley-McCullough syndrome3Sep 21, 2021
Ciliary dyskinesia, primary, 135Sep 11, 2021
Ciliary dyskinesia, primary, 1512Aug 10, 2021
Ciliary dyskinesia, primary, 1815Aug 2, 2021
Ciliary dyskinesia, primary, 22Sep 11, 2021
Ciliary dyskinesia, primary, 214Sep 11, 2021
Ciliary dyskinesia, primary, 274Aug 10, 2021
Ciliary dyskinesia, primary, 365Sep 11, 2021
Ciliary dyskinesia, primary, 333Sep 21, 2021
Ciliary dyskinesia, primary, 341Sep 11, 2021
Ciliary dyskinesia, primary, 373Sep 11, 2021
Ciliary dyskinesia, primary, 382Aug 10, 2021
Ciliary dyskinesia, primary, 4013Sep 11, 2021
Ciliary dyskinesia, primary, 54Sep 21, 2021
Ciliary dyskinesia, primary, 62May 19, 2021
Ciliary dyskinesia, primary, 728Sep 11, 2021
Ciliary dyskinesia, primary, 917Aug 15, 2021
Citrullinemia type I20Aug 30, 2021
Citrullinemia, adult-onset type II5Aug 23, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency5Sep 11, 2021
Classic homocystinuria11Aug 30, 2021
Cobalamin C disease9Aug 30, 2021
Cockayne syndrome B7Sep 11, 2021
Cockayne syndrome type A1Sep 11, 2021
Coenzyme Q10 deficiency, primary 13Sep 11, 2021
Coenzyme Q10 deficiency, primary, 411Aug 4, 2021
Coenzyme Q10 deficiency, primary, 63Sep 11, 2021
Coenzyme Q10 deficiency, primary, 71Sep 11, 2021
Coenzyme Q10 deficiency, primary, 83Sep 11, 2021
Coffin-Siris syndrome 12Aug 9, 2021
Cohen syndrome49Sep 1, 2021
Cohen-Gibson syndrome2Sep 11, 2021
Cole disease2Sep 11, 2021
Combined cellular and humoral immune defects with granulomas4Aug 23, 2021
Combined deficiency of sialidase AND beta galactosidase6Sep 11, 2021
Combined immunodeficiency due to GINS1 deficiency1Sep 21, 2021
Combined immunodeficiency, X-linked3Aug 15, 2021
Combined malonic and methylmalonic aciduria37Aug 30, 2021
Combined oxidative phosphorylation deficiency 119Aug 30, 2021
Combined oxidative phosphorylation deficiency 127Sep 11, 2021
Combined oxidative phosphorylation deficiency 141Sep 21, 2021
Combined oxidative phosphorylation deficiency 179Sep 11, 2021
Combined oxidative phosphorylation deficiency 234Sep 21, 2021
Combined oxidative phosphorylation deficiency 276Aug 10, 2021
Combined oxidative phosphorylation deficiency 35Sep 1, 2021
Combined oxidative phosphorylation deficiency 321Aug 2, 2021
Combined oxidative phosphorylation deficiency 441Sep 21, 2021
Combined oxidative phosphorylation deficiency 61Aug 4, 2021
Combined oxidative phosphorylation deficiency 89Aug 2, 2021
Combined saposin deficiency10Aug 23, 2021
Common variable immunodeficiency 13Sep 21, 2021
Common variable immunodeficiency 32Aug 10, 2021
Common variable immunodeficiency 76Sep 11, 2021
Complement component 3 deficiency, autosomal recessive23Aug 10, 2021
Complement factor B deficiency2Aug 23, 2021
Cone-rod dystrophy 156Aug 23, 2021
Cone-rod dystrophy 21Aug 2, 2021
Cone-rod dystrophy 212Sep 11, 2021
Cone-rod dystrophy 317Aug 4, 2021
Cone-rod dystrophy 62Sep 21, 2021
Cone-rod dystrophy 92Aug 4, 2021
Congenital amegakaryocytic thrombocytopenia3Aug 30, 2021
Congenital anomalies of kidney and urinary tract 1, susceptibility to2Sep 11, 2021
Congenital bilateral aplasia of vas deferens from CFTR mutation31Sep 1, 2021
Congenital bile acid synthesis defect 12Sep 21, 2021
Congenital bile acid synthesis defect 46Aug 4, 2021
Congenital brain dysgenesis due to glutamine synthetase deficiency2Sep 21, 2021
Congenital cataracts-facial dysmorphism-neuropathy syndrome2Sep 11, 2021
Congenital contractural arachnodactyly4Sep 21, 2021
Congenital disorder of glycosylation type 1C7Jul 20, 2021
Congenital disorder of glycosylation type 1u2Sep 11, 2021
Congenital disorder of glycosylation type 2J4Sep 1, 2021
Congenital disorder of glycosylation type 2L3Sep 1, 2021
Congenital disorder of glycosylation type 2i3Sep 1, 2021
Congenital disorder of glycosylation type Ir4Sep 11, 2021
Congenital disorder of glycosylation with defective fucosylation 12Sep 21, 2021
Congenital disorder of glycosylation with defective fucosylation 21Sep 21, 2021
Congenital disorder of glycosylation, type IIr1Aug 9, 2021
Congenital disorder of glycosylation, type Ia7Aug 30, 2021
Congenital dyserythropoietic anemia type type 1B7Aug 10, 2021
Congenital generalized lipodystrophy type 13Aug 4, 2021
Congenital generalized lipodystrophy type 24Aug 9, 2021
Congenital heart defects, multiple types, 53Sep 21, 2021
Congenital heart defects, multiple types, 79Sep 21, 2021
Congenital hereditary endothelial dystrophy of the cornea22Aug 23, 2021
Congenital hydrocephalus 19Aug 10, 2021
Congenital hyperammonemia, type I20Sep 11, 2021
Congenital hypomyelinating neuropathy 1, autosomal recessive1Sep 11, 2021
Congenital hypomyelinating neuropathy 33Sep 1, 2021
Congenital hypotrichosis with juvenile macular dystrophy9Aug 10, 2021
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type26Aug 20, 2021
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B57Aug 15, 2021
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A58Aug 30, 2021
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B312Aug 30, 2021
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B49Sep 21, 2021
Congenital myasthenic syndrome 123Sep 21, 2021
Congenital myasthenic syndrome 131Sep 11, 2021
Congenital myasthenic syndrome 1A4Aug 23, 2021
Congenital myasthenic syndrome 1B, fast-channel4Aug 23, 2021
Congenital myasthenic syndrome 4C7Jul 25, 2021
Congenital myopathy with fiber type disproportion1Aug 4, 2021
Congenital myotonia, autosomal dominant form10Aug 23, 2021
Congenital myotonia, autosomal recessive form10Aug 23, 2021
Congenital stationary night blindness, autosomal dominant 23Sep 21, 2021
Congenital stationary night blindness, type 1B8Sep 21, 2021
Congenital stationary night blindness, type 2A5Aug 10, 2021
Congenital stationary night blindness, type 2B3Aug 10, 2021
Corneal dystrophy, Fuchs endothelial 12Sep 11, 2021
Corneal dystrophy, posterior polymorphous 43Sep 21, 2021
Corneal dystrophy, posterior polymorphous, 22Sep 11, 2021
Corneal dystrophy-perceptive deafness syndrome23Aug 23, 2021
Cornelia de Lange syndrome 51Sep 21, 2021
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1Sep 21, 2021
Cortical dysplasia, complex, with other brain malformations 102Aug 2, 2021
Cortical dysplasia, complex, with other brain malformations 92Sep 11, 2021
Corticosterone 18-monooxygenase deficiency22Jul 7, 2021
Corticosterone methyloxidase type 2 deficiency21Jul 7, 2021
Costello syndrome1Sep 21, 2021
Cranioectodermal dysplasia 15Sep 21, 2021
Craniofrontonasal syndrome1Sep 11, 2021
Craniometaphyseal dysplasia, autosomal dominant2Aug 9, 2021
Creatine transporter deficiency2Jul 31, 2021
Cryptophthalmos, unilateral or bilateral, isolated5Sep 21, 2021
Culler-Jones syndrome9Sep 21, 2021
Curry-Hall syndrome23Sep 11, 2021
Cutis laxa with osteodystrophy7Aug 9, 2021
Cutis laxa, X-linked4Aug 11, 2021
Cutis laxa, autosomal dominant 13Sep 11, 2021
Cutis laxa, autosomal dominant 21Sep 21, 2021
Cutis laxa, autosomal dominant 37Aug 4, 2021
Cutis laxa, autosomal recessive IIIA7Aug 4, 2021
Cylindromatosis, familial1Sep 11, 2021
Cystic fibrosis173Sep 1, 2021
D-2-hydroxyglutaric aciduria 17Sep 11, 2021
DE SANCTIS-CACCHIONE SYNDROME7Sep 11, 2021
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome3Sep 11, 2021
DPAGT1-CDG1Sep 11, 2021
Deafness, X-linked 67Sep 11, 2021
Deafness, autosomal dominant 11Sep 11, 2021
Deafness, autosomal dominant 103Sep 21, 2021
Deafness, autosomal dominant 1162Aug 20, 2021
Deafness, autosomal dominant 1315Sep 1, 2021
Deafness, autosomal dominant 206Aug 4, 2021
Deafness, autosomal dominant 283Sep 21, 2021
Deafness, autosomal dominant 2b1Sep 21, 2021
Deafness, autosomal dominant 3716Sep 1, 2021
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 13Sep 11, 2021
Deafness, autosomal dominant 3a1Aug 15, 2021
Deafness, autosomal dominant 402Sep 11, 2021
Deafness, autosomal dominant 4410Aug 10, 2021
Deafness, autosomal dominant 57Sep 11, 2021
Deafness, autosomal dominant 7112Sep 11, 2021
Deafness, autosomal dominant 802Sep 21, 2021
Deafness, autosomal dominant 92Sep 1, 2021
Deafness, autosomal recessive 1011Sep 21, 2021
Deafness, autosomal recessive 1044Sep 21, 2021
Deafness, autosomal recessive 1064Aug 2, 2021
Deafness, autosomal recessive 1071Aug 30, 2021
Deafness, autosomal recessive 1094Sep 11, 2021
Deafness, autosomal recessive 1102Sep 1, 2021
Deafness, autosomal recessive 11212Aug 9, 2021
Deafness, autosomal recessive 12102Aug 30, 2021
Deafness, autosomal recessive 151Sep 21, 2021
Deafness, autosomal recessive 1836Aug 23, 2021
Deafness, autosomal recessive 18b3May 19, 2021
Deafness, autosomal recessive 1A8Aug 30, 2021
Deafness, autosomal recessive 271Aug 30, 2021
Deafness, autosomal recessive 2318Aug 30, 2021
Deafness, autosomal recessive 251Sep 21, 2021
Deafness, autosomal recessive 292Aug 23, 2021
Deafness, autosomal recessive 3111Sep 11, 2021
Deafness, autosomal recessive 323Aug 10, 2021
Deafness, autosomal recessive 351Sep 11, 2021
Deafness, autosomal recessive 392Sep 21, 2021
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct8Sep 21, 2021
Deafness, autosomal recessive 445Aug 4, 2021
Deafness, autosomal recessive 5315Sep 1, 2021
Deafness, autosomal recessive 592Sep 11, 2021
Deafness, autosomal recessive 664Sep 11, 2021
Deafness, autosomal recessive 71Sep 11, 2021
Deafness, autosomal recessive 7726Aug 30, 2021
Deafness, autosomal recessive 81Jun 9, 2021
Deafness, autosomal recessive 931Aug 10, 2021
Deafness, congenital, with onychodystrophy, autosomal dominant1Aug 9, 2021
Deficiency of 2-methylbutyryl-CoA dehydrogenase4Aug 4, 2021
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase7Aug 30, 2021
Deficiency of acetyl-CoA acetyltransferase13Aug 11, 2021
Deficiency of alpha-mannosidase20Aug 30, 2021
Deficiency of aromatic-L-amino-acid decarboxylase5Sep 11, 2021
Deficiency of butyryl-CoA dehydrogenase4Aug 4, 2021
Deficiency of ferroxidase3Sep 11, 2021
Deficiency of galactokinase10Aug 30, 2021
Deficiency of guanidinoacetate methyltransferase3Jul 25, 2021
Deficiency of hyaluronoglucosaminidase1Sep 21, 2021
Deficiency of hydroxymethylglutaryl-CoA lyase8Aug 30, 2021
Deficiency of phosphoserine phosphatase2May 12, 2021
Deficiency of pyrroline-5-carboxylate reductase14Aug 4, 2021
Deficiency of steroid 11-beta-monooxygenase4Sep 11, 2021
Deficiency of steroid 17-alpha-monooxygenase8Jul 14, 2021
Dejerine-Sottas disease1Sep 11, 2021
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency3Sep 21, 2021
Denticles3Sep 11, 2021
Dentinogenesis imperfecta type 23Sep 11, 2021
Dentinogenesis imperfecta type 33Sep 11, 2021
Desmosterolosis2Sep 11, 2021
Developmental and epileptic encephalopathy 891Sep 21, 2021
Developmental and epileptic encephalopathy 9410Aug 23, 2021
Developmental and epileptic encephalopathy, 632Aug 2, 2021
Developmental and epileptic encephalopathy, 656Sep 11, 2021
Developmental and epileptic encephalopathy, 672Sep 11, 2021
Developmental and epileptic encephalopathy, 696Aug 10, 2021
Developmental and epileptic encephalopathy, 741Sep 21, 2021
Developmental and epileptic encephalopathy, 761Aug 4, 2021
Developmental and epileptic encephalopathy, 7718Aug 2, 2021
Developmental and epileptic encephalopathy, 794Sep 21, 2021
Developmental and epileptic encephalopathy, 8112Sep 11, 2021
Developmental delay and seizures with or without movement abnormalities1Jul 17, 2021
Developmental delay with short stature, dysmorphic features, and sparse hair3Aug 2, 2021
Developmental malformations-deafness-dystonia syndrome3Aug 4, 2021
Diabetes mellitus, insulin-dependent, 21Aug 2, 2021
Diabetes mellitus, neonatal, with congenital hypothyroidism1Sep 21, 2021
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1May 17, 2021
Diaphanospondylodysostosis3Aug 9, 2021
Diarrhea 5, with tufting enteropathy, congenital1Sep 11, 2021
Diarrhea 66Sep 21, 2021
Diarrhea 8, secretory sodium, congenital7Aug 2, 2021
Diastrophic dysplasia7Sep 1, 2021
Diencephalic-mesencephalic junction dysplasia syndrome 23Sep 21, 2021
Dilated cardiomyopathy 1GG4Aug 2, 2021
Dilated cardiomyopathy 1I3Sep 11, 2021
Dilated cardiomyopathy 1J2Sep 21, 2021
Dilated cardiomyopathy 1X2Sep 21, 2021
Dilated cardiomyopathy 3B17Sep 11, 2021
Dilated cardiomyopathy with woolly hair and keratoderma8Sep 11, 2021
Disseminated atypical mycobacterial infection1Sep 21, 2021
Distal arthrogryposis type 2B2Aug 2, 2021
Distal arthrogryposis type 5D4Sep 11, 2021
Distal hereditary motor neuronopathy 2D5Sep 21, 2021
Distal hereditary motor neuronopathy type 2C2Sep 21, 2021
Distal hereditary motor neuronopathy type 53Sep 21, 2021
Distal spinal muscular atrophy, X-linked 34Aug 11, 2021
Doyne honeycomb retinal dystrophy4Sep 11, 2021
Duane retraction syndrome 21Aug 23, 2021
Dubin-Johnson syndrome5Aug 4, 2021
Duchenne muscular dystrophy26Sep 11, 2021
Dyskeratosis congenita, X-linked3Sep 11, 2021
Dyskeratosis congenita, autosomal dominant, 21Aug 2, 2021
Dyskeratosis congenita, autosomal recessive, 521Jul 28, 2021
Dyskinesia, familial, with facial myokymia11Aug 4, 2021
Dyskinesia, seizures, and intellectual developmental disorder8Aug 2, 2021
Dystonia 122Aug 9, 2021
Dystonia 252Sep 21, 2021
Dystonia 2710Sep 11, 2021
Dystonia 51Sep 21, 2021
EEM syndrome9Aug 10, 2021
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 824Sep 21, 2021
Early infantile epileptic encephalopathy 172Sep 21, 2021
Early infantile epileptic encephalopathy 21Aug 23, 2021
Early infantile epileptic encephalopathy 594Sep 21, 2021
Early infantile epileptic encephalopathy 613Aug 4, 2021
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant6Sep 11, 2021
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal6Sep 11, 2021
Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant3Sep 11, 2021
Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive3Sep 11, 2021
Ectodermal dysplasia 9, hair/nail type1Sep 21, 2021
Ectodermal dysplasia/short stature syndrome3Sep 21, 2021
Ectopia lentis et pupillae4Aug 4, 2021
Ehlers-Danlos syndrome classic type 28Sep 11, 2021
Ehlers-Danlos syndrome dermatosparaxis type29Aug 4, 2021
Ehlers-Danlos syndrome, arthrochalasia type, 19Sep 1, 2021
Ehlers-Danlos syndrome, classic type I13Sep 11, 2021
Ehlers-Danlos syndrome, classic-like, 25Aug 4, 2021
Ehlers-Danlos syndrome, musculocontractural type 22Sep 11, 2021
Ehlers-Danlos syndrome, spondylodysplastic type, 14Aug 9, 2021
Ehlers-Danlos syndrome, type 48Sep 1, 2021
Ehlers-danlos syndrome, arthrochalasia type, 24Sep 1, 2021
Ellis-van Creveld syndrome31Sep 11, 2021
Elsahy-Waters syndrome8Aug 10, 2021
Emery-Dreifuss muscular dystrophy 1, X-linked5Aug 15, 2021
Encephalopathy due to defective mitochondrial and peroxisomal fission 16Sep 11, 2021
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 18Aug 9, 2021
Encephalopathy, progressive, with or without lipodystrophy4Aug 9, 2021
Endocrine-cerebroosteodysplasia1Sep 21, 2021
Endplate acetylcholinesterase deficiency5Sep 11, 2021
Enhanced S-cone syndrome2Aug 20, 2021
Epidermodysplasia verruciformis, susceptibility to, 21May 19, 2021
Epidermolysis bullosa simplex, autosomal recessive 26Sep 11, 2021
Epidermolysis bullosa, nonspecific, autosomal recessive4Sep 21, 2021
Epilepsy, childhood absence 21Sep 21, 2021
Epilepsy, familial adult myoclonic, 53Sep 1, 2021
Epilepsy, familial focal, with variable foci 12Sep 11, 2021
Epilepsy, familial focal, with variable foci 35Aug 2, 2021
Epilepsy, familial temporal lobe, 82Sep 21, 2021
Epilepsy, hearing loss, and mental retardation syndrome1Sep 21, 2021
Epilepsy, nocturnal frontal lobe, 51Sep 21, 2021
Epilepsy, nocturnal frontal lobe, type 19Aug 23, 2021
Epilepsy, nocturnal frontal lobe, type 42Aug 23, 2021
Epilepsy, progressive myoclonic 63Sep 21, 2021
Epileptic encephalopathy, early infantile, 192Sep 21, 2021
Epileptic encephalopathy, early infantile, 231Sep 11, 2021
Epileptic encephalopathy, early infantile, 274Sep 21, 2021
Epileptic encephalopathy, early infantile, 291Aug 2, 2021
Epileptic encephalopathy, early infantile, 311Sep 11, 2021
Epileptic encephalopathy, early infantile, 332Sep 11, 2021
Epileptic encephalopathy, early infantile, 372Sep 21, 2021
Epileptic encephalopathy, early infantile, 381Aug 9, 2021
Epileptic encephalopathy, early infantile, 406Sep 21, 2021
Epileptic encephalopathy, early infantile, 4220Aug 10, 2021
Epileptic encephalopathy, early infantile, 431Sep 21, 2021
Epileptic encephalopathy, early infantile, 452Sep 21, 2021
Epileptic encephalopathy, early infantile, 462Sep 21, 2021
Epileptic encephalopathy, early infantile, 472Sep 21, 2021
Epileptic encephalopathy, early infantile, 493Sep 11, 2021
Epileptic encephalopathy, early infantile, 501Aug 10, 2021
Epileptic encephalopathy, early infantile, 541Sep 21, 2021
Epiphyseal dysplasia, multiple, 36Sep 11, 2021
Episodic ataxia type 220Aug 10, 2021
Epithelial recurrent erosion dystrophy14Sep 1, 2021
Erythrocytosis, familial, 71Aug 2, 2021
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige3Sep 11, 2021
Erythrokeratodermia variabilis et progressiva 11Sep 21, 2021
Ethylmalonic encephalopathy5Aug 15, 2021
Even-plus syndrome2Sep 21, 2021
FIBROMUSCULAR DYSPLASIA, MULTIFOCAL13Sep 11, 2021
FRAXE5Aug 4, 2021
Fabry disease4Sep 1, 2021
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs11Aug 9, 2021
Factor H deficiency7Aug 23, 2021
Factor I deficiency5Aug 23, 2021
Factor XIII, A subunit, deficiency of8Sep 21, 2021
Factor XIII, b subunit, deficiency of3Sep 21, 2021
Familial Mediterranean fever36Aug 30, 2021
Familial cancer of breast3Aug 10, 2021
Familial dysautonomia37Aug 30, 2021
Familial hemiplegic migraine type 120Aug 10, 2021
Familial hypercholesterolemia 137Aug 15, 2021
Familial hypercholesterolemia 28Aug 9, 2021
Familial hypercholesterolemia 45Jul 17, 2021
Familial hypokalemia-hypomagnesemia22Aug 23, 2021
Familial infantile myasthenia8Aug 23, 2021
Familial isolated deficiency of vitamin E1Jul 31, 2021
Familial mediterranean fever, autosomal dominant14Jul 14, 2021
Familial partial lipodystrophy 51Aug 23, 2021
Fanconi anemia, complementation group A49Aug 30, 2021
Fanconi anemia, complementation group B1Sep 21, 2021
Fanconi anemia, complementation group C7Aug 15, 2021
Fanconi anemia, complementation group D29Sep 21, 2021
Fanconi anemia, complementation group E3Sep 21, 2021
Fanconi anemia, complementation group F1Sep 21, 2021
Fanconi anemia, complementation group G13Aug 30, 2021
Fanconi anemia, complementation group I9Sep 21, 2021
Fanconi anemia, complementation group L1Sep 21, 2021
Fanconi anemia, complementation group Q5Sep 11, 2021
Fanconi renotubular syndrome 12Sep 21, 2021
Farber disease21Aug 9, 2021
Fatal infantile hypertonic myofibrillar myopathy1Sep 11, 2021
Fetal akinesia deformation sequence 26Aug 23, 2021
Fetal akinesia deformation sequence 33Sep 11, 2021
Fibrochondrogenesis 116Sep 1, 2021
Fibrochondrogenesis 215Sep 1, 2021
Filippi syndrome2Aug 23, 2021
Finnish congenital nephrotic syndrome28Aug 30, 2021
Focal segmental glomerulosclerosis 12Aug 4, 2021
Fraser syndrome 125Sep 21, 2021
Fraser syndrome 25Sep 21, 2021
Fraser syndrome 36Sep 21, 2021
Friedreich ataxia 11Sep 21, 2021
Frontonasal dysplasia 11Aug 4, 2021
Frontonasal dysplasia 28Aug 4, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 24Aug 23, 2021
Fructose-biphosphatase deficiency8Sep 21, 2021
Fukuyama congenital muscular dystrophy11Sep 21, 2021
Fumarase deficiency2Jul 14, 2021
GAPO syndrome4Aug 9, 2021
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY2Sep 21, 2021
GM1 gangliosidosis type 27Sep 21, 2021
GM1 gangliosidosis type 37Sep 21, 2021
GNE myopathy4Jul 31, 2021
GRACILE syndrome5Aug 30, 2021
GTP cyclohydrolase I deficiency1Sep 21, 2021
Galactosemia 41Sep 21, 2021
Galactosylceramide beta-galactosidase deficiency43Aug 30, 2021
Galloway-Mowat syndrome 41Aug 30, 2021
Gamma-aminobutyric acid transaminase deficiency9Aug 2, 2021
Gaucher disease type I13Aug 30, 2021
Gaucher disease type II3Aug 15, 2021
Gaucher disease, perinatal lethal4Jul 7, 2021
Gaze palsy, familial horizontal, with progressive scoliosis, 26Sep 11, 2021
Geleophysic dysplasia 19Aug 4, 2021
Generalized arterial calcification of infancy 214Aug 4, 2021
Generalized epilepsy with febrile seizures plus, type 22Aug 30, 2021
Generalized juvenile polyposis/juvenile polyposis coli2Aug 9, 2021
Geroderma osteodysplastica2Sep 21, 2021
Giant axonal neuropathy 11Sep 21, 2021
Gillessen-Kaesbach-Nishimura syndrome2Aug 4, 2021
Glaucoma 3, primary congenital, A8Sep 11, 2021
Glaucoma, primary closed-angle11Sep 1, 2021
Global developmental delay with or without impaired intellectual development10Sep 11, 2021
Glomerulopathy with fibronectin deposits 218Sep 21, 2021
Glucocorticoid deficiency with achalasia7Aug 2, 2021
Glucose-6-phosphate transport defect11Aug 23, 2021
Glutaric aciduria, type 19Aug 15, 2021
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to1Sep 21, 2021
Glutathione synthetase deficiency with 5-oxoprolinuria1Sep 21, 2021
Glycogen storage disease 0, muscle1Sep 21, 2021
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3Aug 30, 2021
Glycogen storage disease due to hepatic glycogen synthase deficiency7Sep 21, 2021
Glycogen storage disease due to muscle beta-enolase deficiency2Sep 11, 2021
Glycogen storage disease type III8Aug 4, 2021
Glycogen storage disease, type II180Aug 30, 2021
Glycogen storage disease, type IV14Sep 21, 2021
Glycogen storage disease, type V28Aug 23, 2021
Glycogen storage disease, type VII6Aug 30, 2021
Gnathodiaphyseal dysplasia5Aug 9, 2021
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors3Sep 11, 2021
Granulocytopenia with immunoglobulin abnormality3Sep 21, 2021
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative14Aug 30, 2021
Greig cephalopolysyndactyly syndrome2Sep 21, 2021
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1Sep 21, 2021
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Sep 21, 2021
HNSHA due to aldolase A deficiency1Aug 4, 2021
HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS7Sep 1, 2021
Harel-Yoon syndrome6Aug 2, 2021
Hawkinsinuria1Sep 21, 2021
Hb SS disease2Jun 8, 2021
Heimler syndrome 19Aug 20, 2021
Heimler syndrome 211Aug 20, 2021
Helsmoortel-Van der Aa Syndrome2Aug 4, 2021
Hemochromatosis type 11Sep 21, 2021
Hemochromatosis type 2A1Aug 15, 2021
Hemochromatosis type 32Aug 23, 2021
Hemolytic anemia due to glutathione reductase deficiency1Sep 21, 2021
Hemolytic anemia due to hexokinase deficiency6Sep 21, 2021
Hennekam lymphangiectasia-lymphedema syndrome 17Aug 10, 2021
Hennekam lymphangiectasia-lymphedema syndrome 215Sep 21, 2021
Hennekam lymphangiectasia-lymphedema syndrome 33Aug 4, 2021
Hereditary acrodermatitis enteropathica12Aug 23, 2021
Hereditary angioedema type 35Sep 21, 2021
Hereditary congenital facial paresis 31Sep 21, 2021
Hereditary diffuse gastric cancer3Aug 10, 2021
Hereditary diffuse leukoencephalopathy with spheroids6Sep 11, 2021
Hereditary factor IX deficiency disease3Sep 21, 2021
Hereditary factor VIII deficiency disease3Sep 21, 2021
Hereditary factor X deficiency disease3Sep 21, 2021
Hereditary factor XI deficiency disease9Aug 30, 2021
Hereditary fructosuria11Aug 30, 2021
Hereditary hyperferritinemia with congenital cataracts1Sep 21, 2021
Hereditary insensitivity to pain with anhidrosis17Aug 30, 2021
Hereditary leiomyomatosis and renal cell cancer2Jul 14, 2021
Hereditary lymphedema type I9Sep 21, 2021
Hereditary sensory and autonomic neuropathy type IIA18Aug 2, 2021
Hereditary sensory and autonomic neuropathy type IIB3Sep 21, 2021
Hereditary sensory neuropathy type 1D4Aug 9, 2021
Hereditary sensory neuropathy type IE6Sep 11, 2021
Hereditary spastic paraplegia 131Sep 21, 2021
Hereditary spastic paraplegia 232Sep 11, 2021
Hereditary spastic paraplegia 3A4Aug 9, 2021
Hereditary spastic paraplegia 5A1Sep 11, 2021
Hereditary spastic paraplegia 9A7Aug 4, 2021
Hermansky-Pudlak syndrome 116Sep 21, 2021
Hermansky-Pudlak syndrome 22Aug 9, 2021
Hermansky-Pudlak syndrome 315Aug 15, 2021
Hermansky-Pudlak syndrome 47Sep 21, 2021
Hermansky-Pudlak syndrome 52Sep 21, 2021
Hermansky-Pudlak syndrome 81Aug 9, 2021
Heterotaxy, visceral, 4, autosomal3Aug 4, 2021
Heterotopia, periventricular, autosomal recessive5Aug 9, 2021
Histiocytic medullary reticulosis15Sep 11, 2021
Holocarboxylase synthetase deficiency11Aug 15, 2021
Holoprosencephaly 116Aug 23, 2021
Holoprosencephaly 13, X-linked1May 12, 2021
Holoprosencephaly 51Aug 30, 2021
Holoprosencephaly 99Sep 21, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency9Aug 30, 2021
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1Jun 8, 2021
Hurler syndrome14Aug 2, 2021
Hyaline fibromatosis syndrome4Aug 9, 2021
Hydranencephaly with renal aplasia-dysplasia2Aug 23, 2021
Hydrocephalus, congenital, 3, with brain anomalies8Aug 2, 2021
Hydrolethalus syndrome 11Jul 20, 2021
Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to5Sep 11, 2021
Hyper-IgM syndrome type 24Aug 4, 2021
Hyper-IgM syndrome type 32Aug 10, 2021
Hyper-ige recurrent infection syndrome 4, autosomal recessive1May 19, 2021
Hyperammonemia, type III7Aug 20, 2021
Hypercalcemia, infantile, 12Sep 11, 2021
Hypercholanemia, familial2Aug 9, 2021
Hyperekplexia 22Sep 21, 2021
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive27Sep 11, 2021
Hyperinsulinemic hypoglycemia, familial, 11Aug 30, 2021
Hyperinsulinemic hypoglycemia, familial, 23Aug 30, 2021
Hyperlipoproteinemia, type I8Aug 30, 2021
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency2Aug 4, 2021
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome4Jul 20, 2021
Hyperproinsulinemia1Aug 2, 2021
Hypertrichotic osteochondrodysplasia Cantu type13Aug 4, 2021
Hypertriglyceridemia, transient infantile1Sep 21, 2021
Hypertrophic osteoarthropathy, primary, autosomal recessive, 12Sep 21, 2021
Hypobetalipoproteinemia, familial, 18Aug 9, 2021
Hypocalcemia, autosomal dominant 15Aug 10, 2021
Hypocalciuric hypercalcemia, familial, type 15Aug 10, 2021
Hypocalciuric hypercalcemia, familial, type III1Aug 9, 2021
Hypogonadotropic hypogonadism 15 with or without anosmia1May 12, 2021
Hypogonadotropic hypogonadism 19 with or without anosmia1Sep 11, 2021
Hypogonadotropic hypogonadism 21 with or without anosmia1Sep 21, 2021
Hypogonadotropic hypogonadism 24 without anosmia1Sep 21, 2021
Hypogonadotropic hypogonadism 5 with or without anosmia5Aug 23, 2021
Hypogonadotropic hypogonadism 8 with or without anosmia2Aug 2, 2021
Hypohidrotic X-linked ectodermal dysplasia4Sep 11, 2021
Hypokalemic periodic paralysis 114Aug 10, 2021
Hypomagnesemia 6, renal2Sep 1, 2021
Hypomagnesemia, seizures, and mental retardation 12Sep 1, 2021
Hypomyelination and Congenital Cataract1Sep 21, 2021
Hypomyelination with brainstem and spinal cord involvement and leg spasticity2Sep 11, 2021
Hypoparathyroidism, deafness, renal disease syndrome1Sep 21, 2021
Hypophosphatemic rickets, autosomal recessive, 22Sep 11, 2021
Hypopigmentation, organomegaly, and delayed myelination and development11Aug 2, 2021
Hypotonia, infantile, with psychomotor retardation4Aug 10, 2021
Hystrix-like ichthyosis with deafness1Aug 15, 2021
Ichthyosis, congenital, autosomal recessive 141May 19, 2021
Ichthyosis, spastic quadriplegia, and mental retardation1Sep 11, 2021
Idiopathic Pulmonary Fibrosis3May 18, 2021
Idiopathic nephrotic syndrome12Aug 30, 2021
Imerslund-Gräsbeck syndrome 128Sep 11, 2021
Immunodeficiency 117Aug 10, 2021
Immunodeficiency 11b with atopic dermatitis7Aug 10, 2021
Immunodeficiency 161Aug 2, 2021
Immunodeficiency 242Sep 11, 2021
Immunodeficiency 27b1Sep 21, 2021
Immunodeficiency 282Sep 21, 2021
Immunodeficiency 351May 18, 2021
Immunodeficiency 38 with basal ganglia calcification6Aug 2, 2021
Immunodeficiency 3910Aug 2, 2021
Immunodeficiency 408Sep 11, 2021
Immunodeficiency 453Sep 21, 2021
Immunodeficiency 471Aug 9, 2021
Immunodeficiency 602Aug 9, 2021
Immunodeficiency 691Sep 21, 2021
Immunodeficiency 797Aug 10, 2021
Immunodeficiency 81Sep 11, 2021
Immunodeficiency due to defect in cd3-zeta1Aug 10, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 15Sep 11, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 32Aug 10, 2021
Immunodeficiency-centromeric instability-facial anomalies syndrome 42Sep 21, 2021
Infantile GM1 gangliosidosis9Sep 21, 2021
Infantile cerebellar-retinal degeneration6Aug 4, 2021
Infantile hypophosphatasia22Aug 11, 2021
Infantile nystagmus, X-linked4Sep 21, 2021
Infantile-onset ascending hereditary spastic paralysis10Aug 4, 2021
Inflammatory skin and bowel disease, neonatal 17Aug 4, 2021
Inflammatory skin and bowel disease, neonatal, 26Sep 11, 2021
Intellectual developmental disorder 595Aug 10, 2021
Intellectual developmental disorder 60 with seizures4Aug 9, 2021
Intellectual developmental disorder 621Sep 11, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Sep 21, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Aug 9, 2021
Intellectual developmental disorder with hypertelorism and distinctive facies1Aug 10, 2021
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Aug 23, 2021
Intellectual developmental disorder with impaired language and dysmorphic facies1Sep 11, 2021
Intellectual developmental disorder with poor growth and with or without seizures or ataxia13Aug 2, 2021
Intellectual developmental disorder with severe speech and ambulation defects1Aug 4, 2021
Intellectual developmental disorder, autosomal recessive 672Sep 11, 2021
Intellectual developmental disorder, autosomal recessive 715Aug 4, 2021
Intellectual disability, X-linked 1072Sep 11, 2021
Intellectual disability, X-linked syndromic, Turner type3Sep 21, 2021
Intellectual disability, autosomal dominant 522Aug 9, 2021
Intellectual disability, autosomal dominant 535Aug 10, 2021
Intellectual disability, autosomal dominant 5410Aug 10, 2021
Intellectual disability, autosomal dominant 562Sep 1, 2021
Intellectual disability, autosomal recessive 635Aug 10, 2021
Interstitial nephritis, karyomegalic3Sep 21, 2021
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency6Sep 21, 2021
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies1Aug 23, 2021
Isovaleryl-CoA dehydrogenase deficiency10Aug 15, 2021
Joint laxity, short stature, and myopia1Sep 21, 2021
Joubert syndrome 151Aug 23, 2021
Joubert syndrome 171Aug 10, 2021
Joubert syndrome 23Jul 20, 2021
Joubert syndrome 2510Aug 23, 2021
Joubert syndrome 273Aug 9, 2021
Joubert syndrome 2810Aug 30, 2021
Joubert syndrome 34Aug 4, 2021
Joubert syndrome 302Aug 9, 2021
Joubert syndrome 312Aug 23, 2021
Joubert syndrome 351Aug 9, 2021
Joubert syndrome 526Aug 30, 2021
Joubert syndrome 713Jul 25, 2021
Joubert syndrome 913Aug 10, 2021
Juberg-Hayward syndrome2Jul 31, 2021
Junctional epidermolysis bullosa gravis of Herlitz79Aug 15, 2021
Junctional epidermolysis bullosa, non-Herlitz type80Sep 1, 2021
Juvenile nephropathic cystinosis1Aug 30, 2021
Juvenile primary lateral sclerosis10Aug 4, 2021
Juvenile retinoschisis1Jun 16, 2021
KBG syndrome6Aug 9, 2021
Kartagener syndrome8Aug 30, 2021
Keipert syndrome3Sep 21, 2021
Keratitis-ichthyosis-deafness syndrome, autosomal dominant1Aug 15, 2021
Keratolytic winter erythema2Sep 11, 2021
Keratosis palmoplantaris striata II8Sep 11, 2021
Kindler syndrome6Sep 21, 2021
Kleefstra syndrome 13Sep 11, 2021
Knobloch syndrome 111Sep 1, 2021
Kostmann syndrome1Jul 17, 2021
Krabbe disease, atypical, due to saposin A deficiency10Aug 23, 2021
Kufor-Rakeb syndrome8Aug 9, 2021
L-ferritin deficiency1Sep 21, 2021
Lafora disease1Sep 11, 2021
Laron-type isolated somatotropin defect2Sep 21, 2021
Laryngo-onycho-cutaneous syndrome25Aug 15, 2021
Leber congenital amaurosis 12Sep 21, 2021
Leber congenital amaurosis 136Aug 30, 2021
Leber congenital amaurosis 29Sep 1, 2021
Leber congenital amaurosis 55Jul 31, 2021
Leber congenital amaurosis 826Aug 30, 2021
Lethal Kniest-like syndrome46Sep 21, 2021
Lethal acantholytic epidermolysis bullosa8Sep 11, 2021
Lethal arthrogryposis with anterior horn cell disease5Jul 31, 2021
Lethal congenital contracture syndrome 15Jul 31, 2021
Lethal congenital contracture syndrome 111Sep 21, 2021
Lethal congenital contracture syndrome 24Sep 11, 2021
Lethal congenital contracture syndrome 51Sep 11, 2021
Lethal congenital contracture syndrome 73Sep 1, 2021
Lethal multiple pterygium syndrome4Aug 23, 2021
Lethal osteosclerotic bone dysplasia11Sep 21, 2021
Leukodystrophy, hypomyelinating, 155Sep 11, 2021
Leukodystrophy, hypomyelinating, 41Sep 21, 2021
Leukoencephalopathy with vanishing white matter9Sep 21, 2021
Leukoencephalopathy, progressive, with ovarian failure9Aug 2, 2021
Li-Fraumeni syndrome 11Aug 24, 2021
Limb-girdle muscular dystrophy, type 1E1Sep 11, 2021
Limb-girdle muscular dystrophy, type 2A25Aug 30, 2021
Limb-girdle muscular dystrophy, type 2L5Aug 9, 2021
Limb-girdle muscular dystrophy-dystroglycanopathy, type C313Aug 30, 2021
Limb-girdle muscular dystrophy-dystroglycanopathy, type C49Sep 21, 2021
Limb-girdle muscular dystrophy-dystroglycanopathy, type C57Aug 15, 2021
Limb-girdle muscular dystrophy-dystroglycanopathy, type C92Sep 11, 2021
Lipid proteinosis2Sep 11, 2021
Lipodystrophy, congenital generalized, type 31Aug 10, 2021
Lissencephaly 103Aug 23, 2021
Long QT syndrome 152Aug 10, 2021
Long QT syndrome 162Aug 10, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency12Aug 15, 2021
Lymphatic malformation 82Aug 10, 2021
Lymphedema, primary, with myelodysplasia3Sep 21, 2021
Lymphoproliferative syndrome 22Aug 10, 2021
Lysinuric protein intolerance8Aug 23, 2021
Lysosomal acid lipase deficiency8Jul 20, 2021
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 54Aug 4, 2021
MEHMO syndrome1Sep 11, 2021
MEND syndrome1Sep 11, 2021
MPI-CDG4Jul 25, 2021
Macrocephaly, dysmorphic facies, and psychomotor retardation11Sep 21, 2021
Macular degeneration, early-onset4Sep 21, 2021
Macular dystrophy, vitelliform, 41May 19, 2021
Majeed syndrome1May 19, 2021
Malignant tumor of prostate3Aug 10, 2021
Mandibulofacial dysostosis with alopecia2Sep 11, 2021
Mandibulofacial dysostosis-microcephaly syndrome3Sep 11, 2021
Maple syrup urine disease29Sep 11, 2021
Maple syrup urine disease, type 39Aug 15, 2021
Marshall syndrome16Sep 1, 2021
Maturity-onset diabetes of the young, type 101Aug 2, 2021
Maturity-onset diabetes of the young, type 118Aug 9, 2021
Maturity-onset diabetes of the young, type 39Sep 21, 2021
Meckel syndrome type 15Aug 20, 2021
Meckel syndrome type 613Aug 10, 2021
Meckel syndrome, type 105Aug 9, 2021
Meckel syndrome, type 23Jul 20, 2021
Meckel syndrome, type 416Aug 23, 2021
Meckel syndrome, type 512Jul 25, 2021
Meckel syndrome, type 93Aug 9, 2021
Medium-chain acyl-coenzyme A dehydrogenase deficiency14Aug 11, 2021
Meester-loeys syndrome5Aug 9, 2021
Megaconial type congenital muscular dystrophy1Aug 23, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 136Aug 30, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 2a2Sep 21, 2021
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation2Sep 21, 2021
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 32Aug 10, 2021
Meier-Gorlin syndrome 44Aug 23, 2021
Menke-Hennekam syndrome 25Sep 11, 2021
Menkes kinky-hair syndrome4Aug 11, 2021
Mental retardation 3, X-linked8Sep 21, 2021
Mental retardation 63, X-linked1Aug 4, 2021
Mental retardation with language impairment and with or without autistic features1Sep 21, 2021
Mental retardation, X-linked 1042Sep 21, 2021
Mental retardation, X-linked 121May 19, 2021
Mental retardation, X-linked 934Aug 9, 2021
Mental retardation, X-linked, syndromic, Bain type1Sep 21, 2021
Mental retardation, X-linked, syndromic, Hedera type1Aug 9, 2021
Mental retardation, X-linked, syndromic, wu type4Sep 21, 2021
Mental retardation, autosomal dominant 1310Sep 11, 2021
Mental retardation, autosomal dominant 181Sep 21, 2021
Mental retardation, autosomal dominant 248Aug 2, 2021
Mental retardation, autosomal dominant 33Aug 10, 2021
Mental retardation, autosomal dominant 304Aug 2, 2021
Mental retardation, autosomal dominant 361Aug 30, 2021
Mental retardation, autosomal dominant 382Sep 11, 2021
Mental retardation, autosomal dominant 394Aug 2, 2021
Mental retardation, autosomal dominant 432Sep 21, 2021
Mental retardation, autosomal dominant 64Sep 21, 2021
Mental retardation, autosomal recessive 23Sep 11, 2021
Mental retardation, autosomal recessive 32Aug 10, 2021
Mental retardation, autosomal recessive 361Aug 2, 2021
Mental retardation, autosomal recessive 3713Aug 9, 2021
Mental retardation, autosomal recessive 385Sep 21, 2021
Mental retardation, autosomal recessive 477Sep 21, 2021
Mental retardation, autosomal recessive 532Aug 2, 2021
Mental retardation, autosomal recessive 542May 19, 2021
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1Aug 9, 2021
Mental retardation, fra12a type6Sep 11, 2021
Mental retardation, short stature, facial anomalies, and joint dislocations1Sep 21, 2021
Meretoja syndrome3Sep 21, 2021
Mesoaxial synostotic syndactyly with phalangeal reduction1Aug 2, 2021
Metachromatic leukodystrophy13Aug 30, 2021
Metaphyseal chondrodysplasia, Schmid type1Sep 1, 2021
Methylmalonate semialdehyde dehydrogenase deficiency1Aug 4, 2021
Methylmalonic acidemia with homocystinuria, type cblJ5Aug 4, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency7Aug 30, 2021
Microcephalic osteodysplastic dysplasia, Saul-Wilson type4Sep 1, 2021
Microcephalic osteodysplastic primordial dwarfism type II1Aug 30, 2021
Microcephaly 16, primary, autosomal recessive10Aug 9, 2021
Microcephaly 17, primary, autosomal recessive6Aug 23, 2021
Microcephaly 19, primary, autosomal recessive3Sep 11, 2021
Microcephaly 25, primary, autosomal recessive1Aug 10, 2021
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome10Sep 21, 2021
Microcephaly, normal intelligence and immunodeficiency22Aug 20, 2021
Microcephaly, postnatal progressive, with seizures and brain atrophy6Jul 20, 2021
Microcephaly, short stature, and polymicrogyria with or without seizures1May 19, 2021
Microphthalmia with brain and digit anomalies4Aug 9, 2021
Microphthalmia, isolated 24Jul 20, 2021
Microphthalmia, isolated, with coloboma 33Jul 20, 2021
Miller syndrome3Sep 11, 2021
Mirror movements 16Sep 11, 2021
Mitchell syndrome7Aug 11, 2021
Mitochondrial DNA depletion syndrome 1 (MNGIE type)4Jul 31, 2021
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Sep 11, 2021
Mitochondrial complex 1 deficiency, nuclear type 164Jun 20, 2021
Mitochondrial complex 1 deficiency, nuclear type 191Sep 21, 2021
Mitochondrial complex 1 deficiency, nuclear type 32Aug 2, 2021
Mitochondrial complex 1 deficiency, nuclear type 95Aug 2, 2021
Mitochondrial complex 4 deficiency, nuclear type 171Aug 9, 2021
Mitochondrial complex II deficiency, nuclear type 14Aug 2, 2021
Mitochondrial complex III deficiency, nuclear type 15Aug 30, 2021
Mitochondrial complex III deficiency, nuclear type 63Sep 11, 2021
Mitochondrial complex III deficiency, nuclear type 91Aug 10, 2021
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy2Sep 21, 2021
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency4Sep 11, 2021
Mitochondrial trifunctional protein deficiency2Aug 15, 2021
Miyoshi muscular dystrophy 188Sep 11, 2021
Miyoshi muscular dystrophy 35Aug 9, 2021
Mosaic variegated aneuploidy syndrome 14Aug 10, 2021
Moyamoya disease 6 with achalasia1Sep 21, 2021
Mucolipidosis type II21Sep 21, 2021
Mucolipidosis type III gamma1Aug 30, 2021
Mucolipidosis type IV20Aug 20, 2021
Mucopolysaccharidosis type 68Aug 30, 2021
Mucopolysaccharidosis type 74Sep 21, 2021
Mucopolysaccharidosis, MPS-I-H/S15Aug 2, 2021
Mucopolysaccharidosis, MPS-I-S14Aug 2, 2021
Mucopolysaccharidosis, MPS-II2Sep 21, 2021
Mucopolysaccharidosis, MPS-III-B3Aug 20, 2021
Mucopolysaccharidosis, MPS-III-C5Aug 15, 2021
Mucopolysaccharidosis, MPS-III-D7Sep 21, 2021
Mucopolysaccharidosis, MPS-IV-A4Sep 21, 2021
Mucopolysaccharidosis, MPS-IV-B7Sep 21, 2021
Multiple acyl-CoA dehydrogenase deficiency11Sep 11, 2021
Multiple congenital exostosis2Sep 21, 2021
Multiple endocrine neoplasia, type 41Aug 23, 2021
Multiple epiphyseal dysplasia 612Sep 11, 2021
Multiple epiphyseal dysplasia type 47Sep 1, 2021
Multiple exostoses type 21Sep 21, 2021
Multiple fibrofolliculomas2Sep 21, 2021
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Aug 9, 2021
Multiple mitochondrial dysfunctions syndrome 32Sep 21, 2021
Multiple sulfatase deficiency1Aug 23, 2021
Multiple synostoses syndrome 34Sep 21, 2021
Muscular dystrophy, congenital, with cataracts and intellectual disability2Aug 2, 2021
Muscular dystrophy, limb-girdle, autosomal dominant 418Aug 30, 2021
Muscular dystrophy, limb-girdle, type 2X3Aug 10, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A321Aug 30, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Aug 9, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 141Sep 21, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91Sep 11, 2021
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 141Sep 21, 2021
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141Sep 21, 2021
Myasthenia, limb-girdle, familial3Sep 11, 2021
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency6Aug 23, 2021
Myasthenic syndrome, congenital, 198Sep 1, 2021
Myasthenic syndrome, congenital, 2a, slow-channel2Aug 23, 2021
Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency2Aug 23, 2021
Myasthenic syndrome, congenital, 4a, slow-channel8Jul 25, 2021
Myasthenic syndrome, congenital, 4b, fast-channel7Jul 25, 2021
Myasthenic syndrome, congenital, 819Aug 4, 2021
Myofibrillar myopathy 13Sep 11, 2021
Myofibrillar myopathy, BAG3-related3Aug 9, 2021
Myopathy with postural muscle atrophy, X-linked1Sep 21, 2021
Myopathy, centronuclear, 11Sep 11, 2021
Myopathy, centronuclear, 213Aug 9, 2021
Myopathy, centronuclear, 45Aug 2, 2021
Myopathy, congenital, compton-north1Sep 1, 2021
Myopathy, congenital, with structured cores and z-line abnormalities10Aug 4, 2021
Myopathy, distal, 55Aug 4, 2021
Myopathy, distal, with anterior tibial onset40Sep 11, 2021
Myopathy, isolated mitochondrial, autosomal dominant4Aug 23, 2021
Myopathy, lactic acidosis, and sideroblastic anemia 11Jul 20, 2021
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1Aug 2, 2021
Myopathy, reducing body, X-linked, childhood-onset1Sep 21, 2021
Myopathy, reducing body, X-linked, early-onset, severe1Sep 21, 2021
Myopathy, scapulohumeroperoneal1Aug 4, 2021
Myopia 62Jul 31, 2021
Myosclerosis, autosomal recessive12Sep 11, 2021
Myotonic dystrophy type 21Sep 1, 2021
Nail disorder, nonsyndromic congenital, 11Sep 21, 2021
Navajo neurohepatopathy1Jul 28, 2021
Nemaline myopathy 274Aug 20, 2021
Nemaline myopathy 31Aug 4, 2021
Neonatal ichthyosis-sclerosing cholangitis syndrome1Aug 23, 2021
Neonatal intrahepatic cholestasis caused by citrin deficiency6Aug 23, 2021
Neonatal severe hyperparathyroidism5Aug 10, 2021
Nephrogenic diabetes insipidus, X-linked2Aug 9, 2021
Nephrogenic diabetes insipidus, autosomal8Aug 30, 2021
Nephrogenic syndrome of inappropriate antidiuresis2Aug 9, 2021
Nephronophthisis 158Aug 23, 2021
Nephronophthisis 164Aug 9, 2021
Nephronophthisis 194Sep 11, 2021
Nephronophthisis 71Sep 21, 2021
Nephropathic cystinosis15Aug 30, 2021
Nephrotic syndrome, type 101Sep 11, 2021
Nephrotic syndrome, type 211Aug 9, 2021
Nephrotic syndrome, type 72Sep 11, 2021
Nephrotic syndrome, type 92Aug 4, 2021
Neu-Laxova syndrome 15Jul 17, 2021
Neurodegeneration with ataxia and late-onset optic atrophy4Aug 2, 2021
Neurodegeneration with brain iron accumulation 41Aug 10, 2021
Neurodegeneration with brain iron accumulation 62Sep 1, 2021
Neurodegeneration with brain iron accumulation 82Sep 11, 2021
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies15Sep 11, 2021
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies22Aug 2, 2021
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Aug 9, 2021
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures1Aug 4, 2021
Neurodevelopmental disorder with hypotonia, seizures, and absent language7Sep 21, 2021
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Sep 11, 2021
Neurodevelopmental disorder with involuntary movements2Sep 21, 2021
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities8Aug 2, 2021
Neurodevelopmental disorder with midbrain and hindbrain malformations4Aug 9, 2021
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant4Sep 21, 2021
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive4Sep 21, 2021
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA10Aug 2, 2021
Neurodevelopmental disorder with poor language and loss of hand skills4Sep 21, 2021
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1May 19, 2021
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements3Aug 10, 2021
Neurodevelopmental disorder with visual defects and brain anomalies6Sep 21, 2021
Neuroferritinopathy1Sep 21, 2021
Neurogenic scapuloperoneal syndrome, Kaeser type3Sep 11, 2021
Neuronal ceroid lipofuscinosis 19Jul 17, 2021
Neuronal ceroid lipofuscinosis 102Aug 2, 2021
Neuronal ceroid lipofuscinosis 59Aug 30, 2021
Neuronal ceroid lipofuscinosis 71Jun 8, 2021
Neuronal ceroid lipofuscinosis 82Jul 31, 2021
Neuronal intestinal pseudoobstruction4Sep 11, 2021
Neuronopathy, distal hereditary motor, type 5C4Aug 9, 2021
Neurooculocardiogenitourinary syndrome1Aug 2, 2021
Neuropathy, hereditary motor and sensory, Russe type6Sep 21, 2021
Neuropathy, hereditary sensory and autonomic, type VI7Sep 11, 2021
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive15Aug 10, 2021
Neutral 1 amino acid transport defect6Aug 2, 2021
Neutral lipid storage myopathy3Aug 2, 2021
Neutropenia, severe congenital, 7, autosomal recessive2Sep 11, 2021
Nicolaides-Baraitser syndrome3Aug 2, 2021
Niemann-Pick disease type C128Aug 30, 2021
Niemann-Pick disease, type A13Aug 23, 2021
Niemann-Pick disease, type B10Sep 1, 2021
Niemann-Pick disease, type C25Aug 30, 2021
Night blindness, congenital stationary, type 1h1Sep 21, 2021
Night blindness, congenital stationary, type1i2Sep 21, 2021
Non-acquired combined pituitary hormone deficiency with spine abnormalities6Jul 31, 2021
Non-ketotic hyperglycinemia17Sep 21, 2021
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2Aug 10, 2021
Nystagmus 6, congenital, X-linked1Sep 21, 2021
Ocular albinism, type I1Sep 21, 2021
Ocular albinism, type II5Aug 10, 2021
Ocular cystinosis13Aug 30, 2021
Oculoauricular syndrome1Sep 21, 2021
Oculocutaneous albinism type 11Aug 9, 2021
Oculofaciocardiodental syndrome4Aug 9, 2021
Oculotrichoanal syndrome13Sep 21, 2021
Odonto-onycho-dermal dysplasia3Sep 1, 2021
Okur-chung neurodevelopmental syndrome1Aug 2, 2021
Oligodontia-colorectal cancer syndrome6Aug 9, 2021
Oocyte maturation defect 212Jul 31, 2021
Optic atrophy 125Aug 4, 2021
Optic atrophy 34Jun 20, 2021
Optic atrophy 56Sep 11, 2021
Optic atrophy 97Aug 4, 2021
Ornithine aminotransferase deficiency7Aug 30, 2021
Ornithine carbamoyltransferase deficiency1Jun 15, 2021
Orofaciodigital syndrome 181Sep 21, 2021
Orofaciodigital syndrome V2Sep 11, 2021
Orofaciodigital syndrome type 61Aug 10, 2021
Orofaciodigital syndrome xiv2Aug 10, 2021
Orthostatic hypotension 14Sep 11, 2021
Osteochondritis dissecans21Aug 4, 2021
Osteogenesis imperfecta type 51Aug 2, 2021
Osteogenesis imperfecta type 73Sep 11, 2021
Osteogenesis imperfecta type I9Sep 1, 2021
Osteogenesis imperfecta type III13Sep 1, 2021
Osteogenesis imperfecta with normal sclerae, dominant form13Sep 1, 2021
Osteogenesis imperfecta, recessive perinatal lethal13Sep 1, 2021
Osteogenesis imperfecta, type xiii3Aug 9, 2021
Osteogenesis imperfecta, type xvi2Sep 11, 2021
Osteopetrosis with renal tubular acidosis2Aug 10, 2021
Otofaciocervical syndrome 15Sep 21, 2021
Otospondylomegaepiphyseal dysplasia, autosomal dominant15Sep 1, 2021
Otospondylomegaepiphyseal dysplasia, autosomal recessive15Sep 1, 2021
Ovarian dysgenesis 12Sep 21, 2021
Ovarian dysgenesis 21Aug 9, 2021
Ovarian hyperstimulation syndrome2Sep 21, 2021
PEHO-like syndrome5Aug 10, 2021
Paganini-Miozzo syndrome1Sep 21, 2021
Pallister-Hall syndrome2Sep 21, 2021
Palmoplantar keratoderma i, striate, focal, or diffuse3Sep 11, 2021
Palmoplantar keratoderma, punctate type 1A1Aug 2, 2021
Parietal foramina 28Aug 4, 2021
Parkinsonism-dystonia, infantile, 12Aug 2, 2021
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1Sep 21, 2021
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome1Aug 10, 2021
Peeling skin syndrome 11Aug 23, 2021
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads3Aug 10, 2021
Pendred syndrome12Sep 1, 2021
Periventricular nodular heterotopia 61May 18, 2021
Perlman syndrome1Sep 11, 2021
Permanent neonatal diabetes mellitus 32Aug 30, 2021
Permanent neonatal diabetes mellitus 41Aug 2, 2021
Peroxisomal acyl-CoA oxidase deficiency7Aug 11, 2021
Peroxisome biogenesis disorder 1A (Zellweger)23Aug 30, 2021
Peroxisome biogenesis disorder 1B9Aug 20, 2021
Peroxisome biogenesis disorder 4B11Aug 20, 2021
Peroxisome biogenesis disorder 4a (zellweger)11Aug 20, 2021
Peroxisome biogenesis disorder 5B6Aug 20, 2021
Peroxisome biogenesis disorder 5a (zellweger)9Aug 20, 2021
Peroxisome biogenesis disorder 6A7Aug 20, 2021
Peroxisome biogenesis disorder 6B5Aug 20, 2021
Peroxisome biogenesis disorder 9B5Aug 20, 2021
Perrault syndrome 113Aug 15, 2021
Perrault syndrome 21Sep 21, 2021
Perrault syndrome 32Sep 1, 2021
Perrault syndrome 61Sep 11, 2021
Peters plus syndrome14Aug 9, 2021
Phenylketonuria24Aug 30, 2021
Phosphate transport defect10Aug 23, 2021
Phosphoglycerate dehydrogenase deficiency5Jul 17, 2021
Pigmented paravenous chorioretinal atrophy11Aug 30, 2021
Pili torti-deafness syndrome5Aug 30, 2021
Pili torti-developmental delay-neurological abnormalities syndrome3Sep 21, 2021
Pitt-Hopkins-like syndrome 16Sep 1, 2021
Pituitary adenoma 5, multiple types7Aug 10, 2021
Pituitary hormone deficiency, combined 23Jul 31, 2021
Pityriasis rubra pilaris12Aug 10, 2021
Platelet-type bleeding disorder 1112Sep 21, 2021
Pneumothorax, primary spontaneous2Sep 21, 2021
Polycystic kidney disease 447Aug 30, 2021
Polycystic kidney disease 54Sep 11, 2021
Polycystic kidney disease, adult type3Aug 2, 2021
Polydactyly, postaxial, type A83Sep 21, 2021
Polyendocrine-polyneuropathy syndrome12Sep 11, 2021
Polyglandular autoimmune syndrome, type 111Aug 11, 2021
Polyglucosan body myopathy 1 with or without immunodeficiency5Aug 2, 2021
Polymicrogyria with or without vascular-type ehlers-danlos syndrome8Sep 1, 2021
Polymicrogyria, bilateral frontoparietal13Aug 11, 2021
Polymicrogyria, bilateral temporooccipital6Sep 21, 2021
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract7Aug 4, 2021
Pontocerebellar hypoplasia type 1A3Jul 20, 2021
Pontocerebellar hypoplasia type 2D3Aug 23, 2021
Pontocerebellar hypoplasia type 614Aug 23, 2021
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal6Aug 2, 2021
Pontocerebellar hypoplasia, type 122Sep 1, 2021
Pontocerebellar hypoplasia, type 1b1Sep 21, 2021
Pontocerebellar hypoplasia, type 1c1Sep 21, 2021
Pontocerebellar hypoplasia, type 2e13Aug 2, 2021
Porencephaly 217Sep 1, 2021
Portal hypertension, noncirrhotic1Sep 11, 2021
Postaxial polydactyly type A12Sep 21, 2021
Postaxial polydactyly type A61Aug 2, 2021
Posterior column ataxia-retinitis pigmentosa syndrome3Sep 21, 2021
Preaxial hand polydactyly3Sep 21, 2021
Preaxial polydactyly 42Sep 21, 2021
Premature ovarian failure 156Sep 21, 2021
Premature ovarian failure 65Sep 21, 2021
Primary aldosteronism, seizures, and neurologic abnormalities11Aug 10, 2021
Primary autosomal recessive microcephaly 134Aug 23, 2021
Primary autosomal recessive microcephaly 38Aug 10, 2021
Primary autosomal recessive microcephaly 412Aug 10, 2021
Primary autosomal recessive microcephaly 514Aug 9, 2021
Primary autosomal recessive microcephaly 64Aug 23, 2021
Primary autosomal recessive microcephaly 91Aug 23, 2021
Primary ciliary dyskinesia 235Aug 9, 2021
Primary ciliary dyskinesia 252Sep 11, 2021
Primary hyperoxaluria, type I15Jul 28, 2021
Primary hyperoxaluria, type II11Aug 30, 2021
Primary hyperoxaluria, type III5Sep 21, 2021
Primary hypomagnesemia3Aug 23, 2021
Primary pulmonary hypertension 31Aug 10, 2021
Progressive bulbar palsy of childhood8Aug 2, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 61Sep 11, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41Sep 11, 2021
Progressive familial intrahepatic cholestasis 216Aug 11, 2021
Progressive familial intrahepatic cholestasis 36Aug 4, 2021
Progressive myositis ossificans3Aug 4, 2021
Progressive osseous heteroplasia1Sep 21, 2021
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome3Sep 21, 2021
Propionic acidemia16Aug 30, 2021
Prothrombin deficiency, congenital1Sep 21, 2021
Protoporphyria, erythropoietic, 14Sep 21, 2021
Protoporphyria, erythropoietic, 21Sep 1, 2021
Pseudo-Hurler polydystrophy19Sep 21, 2021
Pseudohypoparathyroidism type 1B1Sep 21, 2021
Pseudohypoparathyroidism type 1C1Sep 21, 2021
Pseudohypoparathyroidism type I A1Sep 21, 2021
Pseudopseudohypoparathyroidism1Sep 21, 2021
Pseudoxanthoma elasticum14Aug 4, 2021
Pseudoxanthoma elasticum, forme fruste14Aug 4, 2021
Psoriasis susceptibility 212Aug 10, 2021
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11Aug 2, 2021
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 321Jul 28, 2021
Pulmonary venoocclusive disease 2, autosomal recessive7Sep 11, 2021
Pyknodysostosis2Jul 17, 2021
Pyridoxine-dependent epilepsy3Aug 4, 2021
Pyruvate dehydrogenase E1-beta deficiency4Aug 20, 2021
Pyruvate dehydrogenase E2 deficiency5Sep 11, 2021
Radial aplasia-thrombocytopenia syndrome1May 19, 2021
Recessive dystrophic epidermolysis bullosa1Jun 1, 2021
Renal carnitine transport defect8Sep 1, 2021
Renal dysplasia12Aug 4, 2021
Renal hypodysplasia/aplasia 21Sep 21, 2021
Renal hypodysplasia/aplasia 32Sep 21, 2021
Renal tubular acidosis with progressive nerve deafness14Aug 30, 2021
Renal tubular acidosis, distal, autosomal recessive7Aug 9, 2021
Retinal cone dystrophy 417Aug 2, 2021
Retinal dystrophy with leukodystrophy3Aug 4, 2021
Retinitis pigmentosa 1220Aug 30, 2021
Retinitis pigmentosa 1917Aug 4, 2021
Retinitis pigmentosa 203Sep 1, 2021
Retinitis pigmentosa 2563Aug 30, 2021
Retinitis pigmentosa 2610Aug 23, 2021
Retinitis pigmentosa 289Jul 28, 2021
Retinitis pigmentosa 371Aug 20, 2021
Retinitis pigmentosa 3941Sep 1, 2021
Retinitis pigmentosa 402Aug 2, 2021
Retinitis pigmentosa 4512Sep 1, 2021
Retinitis pigmentosa 461Sep 21, 2021
Retinitis pigmentosa 482Sep 21, 2021
Retinitis pigmentosa 493Sep 1, 2021
Retinitis pigmentosa 505Aug 9, 2021
Retinitis pigmentosa 547Aug 10, 2021
Retinitis pigmentosa 591Jul 17, 2021
Retinitis pigmentosa 714Sep 21, 2021
Retinitis pigmentosa 734Aug 15, 2021
Retinitis pigmentosa 7411Aug 11, 2021
Retinitis pigmentosa 7620Aug 30, 2021
Retinitis pigmentosa 777Aug 2, 2021
Retinitis pigmentosa 796Sep 21, 2021
Retinitis pigmentosa 8012Aug 2, 2021
Retinitis pigmentosa 831Aug 9, 2021
Retinitis pigmentosa 847Sep 11, 2021
Retinitis pigmentosa 87 with choroidal involvement4Jul 14, 2021
Retinitis pigmentosa with or without skeletal anomalies6Sep 11, 2021
Rhizomelic chondrodysplasia punctata type 15Aug 20, 2021
Rhizomelic chondrodysplasia punctata type 22Sep 21, 2021
Rhizomelic chondrodysplasia punctata type 35Aug 11, 2021
Ritscher-schinzel syndrome 23Aug 10, 2021
Roberts-SC phocomelia syndrome3Jul 31, 2021
Robinow syndrome, autosomal dominant 25Aug 2, 2021
Rothmund-Thomson syndrome type 17Aug 9, 2021
Rubinstein-Taybi syndrome 25Sep 11, 2021
SLC39A8-CDG1Aug 30, 2021
Saldino-Mainzer syndrome12Aug 2, 2021
Salla disease15Aug 23, 2021
Sandhoff disease10Aug 30, 2021
Scapuloperoneal myopathy, X-linked dominant1Sep 21, 2021
Schimke immuno-osseous dysplasia10Jul 28, 2021
Schopf-Schulz-Passarge syndrome1Aug 23, 2021
Schwartz-Jampel syndrome46Sep 21, 2021
Sclerosing cholangitis, neonatal4Sep 11, 2021
Seckel syndrome 14Aug 9, 2021
Seckel syndrome 44Aug 23, 2021
Seckel syndrome 51Aug 23, 2021
Seckel syndrome 61Aug 23, 2021
Seckel syndrome 81Sep 11, 2021
Seckel syndrome 91May 19, 2021
Seizures, cortical blindness, and microcephaly syndrome1Sep 11, 2021
Seizures, scoliosis, and macrocephaly syndrome1Sep 21, 2021
Senior-Loken syndrome 616Aug 23, 2021
Severe X-linked myotubular myopathy1Jul 31, 2021
Severe autosomal recessive muscular dystrophy of childhood - North African type8Aug 23, 2021
Severe combined immunodeficiency due to ADA deficiency18Aug 30, 2021
Severe combined immunodeficiency due to DCLRE1C deficiency12Sep 11, 2021
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive5Aug 30, 2021
Severe congenital neutropenia 2, autosomal dominant1Sep 21, 2021
Shaheen syndrome3Sep 1, 2021
Short stature and microcephaly with genital anomalies3Aug 23, 2021
Short stature due to growth hormone secretagogue receptor deficiency2Sep 21, 2021
Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities1Sep 21, 2021
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies2Aug 9, 2021
Short stature, idiopathic, autosomal2Sep 21, 2021
Short-rib thoracic dysplasia 10 with or without polydactyly4Sep 21, 2021
Short-rib thoracic dysplasia 13 with or without polydactyly2Aug 23, 2021
Short-rib thoracic dysplasia 15 with polydactyly1Sep 11, 2021
Short-rib thoracic dysplasia 16 with or without polydactyly1Sep 21, 2021
Short-rib thoracic dysplasia 3 with or without polydactyly14Sep 11, 2021
Shprintzen-Goldberg syndrome2Aug 2, 2021
Shwachman-Diamond syndrome 24Sep 11, 2021
Sialic acid storage disease, severe infantile type15Aug 23, 2021
Sialuria4Aug 30, 2021
Sifrim-Hitz-Weiss syndrome3Aug 23, 2021
Singleton-Merten syndrome 12Sep 21, 2021
Singleton-Merten syndrome 26Sep 11, 2021
Sinoatrial node dysfunction and deafness11Aug 10, 2021
Sitosterolemia 112Aug 4, 2021
Sjögren-Larsson syndrome7Aug 4, 2021
Skeletal dysplasia, mild, with joint laxity and advanced bone age2Sep 11, 2021
Skin fragility-woolly hair-palmoplantar keratoderma syndrome8Sep 11, 2021
Smith-Lemli-Opitz syndrome22Aug 30, 2021
Snijders blok-campeau syndrome3Aug 30, 2021
Sotos syndrome 32Aug 2, 2021
Spastic ataxia 5, autosomal recessive5Aug 4, 2021
Spastic paraplegia 11, autosomal recessive1Aug 30, 2021
Spastic paraplegia 174Aug 9, 2021
Spastic paraplegia 28, autosomal recessive6Sep 11, 2021
Spastic paraplegia 353Sep 21, 2021
Spastic paraplegia 43, autosomal recessive1Aug 10, 2021
Spastic paraplegia 46, autosomal recessive1Sep 21, 2021
Spastic paraplegia 47, autosomal recessive3Aug 9, 2021
Spastic paraplegia 48, autosomal recessive5Aug 9, 2021
Spastic paraplegia 49, autosomal recessive11Jul 20, 2021
Spastic paraplegia 50, autosomal recessive4Aug 9, 2021
Spastic paraplegia 51, autosomal recessive4Aug 9, 2021
Spastic paraplegia 52, autosomal recessive4Aug 9, 2021
Spastic paraplegia 54, autosomal recessive1Sep 11, 2021
Spastic paraplegia 56, autosomal recessive1Sep 11, 2021
Spastic paraplegia 62, autosomal recessive1Sep 11, 2021
Spastic paraplegia 64, autosomal recessive1Sep 11, 2021
Spastic paraplegia 73, autosomal dominant1Sep 11, 2021
Spastic paraplegia 74, autosomal recessive2Sep 21, 2021
Spastic paraplegia 76, autosomal recessive7Aug 10, 2021
Spastic paraplegia 77, autosomal recessive1Sep 21, 2021
Spastic paraplegia 78, autosomal recessive8Aug 9, 2021
Spastic paraplegia 9b, autosomal recessive7Aug 4, 2021
Spastic paraplegia and psychomotor retardation with or without seizures6Sep 21, 2021
Spermatogenic failure 183Sep 11, 2021
Spermatogenic failure 245Aug 10, 2021
Spermatogenic failure 286Sep 21, 2021
Spermatogenic failure 72Aug 10, 2021
Spherocytosis type 110Aug 9, 2021
Sphingolipid activator protein 1 deficiency10Aug 23, 2021
Spinal muscular atrophy, distal, autosomal recessive, 53Sep 11, 2021
Spinal muscular atrophy, infantile, James type3Sep 21, 2021
Spinal muscular atrophy, jokela type4Aug 23, 2021
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant10Sep 11, 2021
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1Aug 9, 2021
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1Aug 9, 2021
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome21Aug 9, 2021
Spinocerebellar ataxia 409Aug 10, 2021
Spinocerebellar ataxia 427Aug 10, 2021
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits8Aug 10, 2021
Spinocerebellar ataxia 445Sep 21, 2021
Spinocerebellar ataxia 4524Sep 21, 2021
Spinocerebellar ataxia 481Aug 2, 2021
Spinocerebellar ataxia type 263Sep 11, 2021
Spinocerebellar ataxia type 285Aug 4, 2021
Spinocerebellar ataxia type 341Sep 11, 2021
Spinocerebellar ataxia type 620Aug 10, 2021
Spinocerebellar ataxia, X-linked 110Aug 9, 2021
Spinocerebellar ataxia, autosomal recessive 105Aug 9, 2021
Spinocerebellar ataxia, autosomal recessive 135Sep 21, 2021
Spinocerebellar ataxia, autosomal recessive 161Aug 2, 2021
Spinocerebellar ataxia, autosomal recessive 182Sep 21, 2021
Spondylocostal dysostosis 1, autosomal recessive5Sep 11, 2021
Spondylocostal dysostosis 2, autosomal recessive2Jun 16, 2021
Spondyloenchondrodysplasia with immune dysregulation3Aug 4, 2021
Spondyloepimetaphyseal dysplasia, Shohat type1Sep 11, 2021
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy1Aug 4, 2021
Spondyloepimetaphyseal dysplasia, aggrecan type23Aug 4, 2021
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome4Sep 11, 2021
Spondyloepiphyseal dysplasia, kimberley type21Aug 4, 2021
Spondylometaphyseal dysplasia - Sutcliffe type18Sep 21, 2021
Spongy degeneration of central nervous system5Aug 30, 2021
Squalene synthase deficiency5Sep 21, 2021
Stargardt Disease 31Sep 11, 2021
Stargardt disease 118Aug 4, 2021
Steel syndrome44Aug 11, 2021
Stickler syndrome type 216Sep 1, 2021
Stromme syndrome30Aug 23, 2021
Stüve-Wiedemann syndrome9Jul 31, 2021
Subcutaneous panniculitis-like T-cell lymphoma1Sep 21, 2021
Surfactant metabolism dysfunction, pulmonary, 36Aug 2, 2021
Symmetrical dyschromatosis of extremities5Aug 4, 2021
Syndactyly, type V1Sep 21, 2021
Synpolydactyly 11Sep 21, 2021
Synpolydactyly 22Sep 21, 2021
T-cell immunodeficiency, congenital alopecia, and nail dystrophy3Sep 21, 2021
TMEM199-CDG1May 17, 2021
Tangier disease6Aug 2, 2021
Tay-Sachs disease14Aug 30, 2021
Tay-Sachs disease, variant AB3Sep 21, 2021
Telangiectasia, hereditary hemorrhagic, type 22Aug 4, 2021
Temtamy preaxial brachydactyly syndrome3Aug 23, 2021
Temtamy syndrome2Aug 10, 2021
Testicular regression syndrome15Sep 11, 2021
Thauvin-Robinet-Faivre syndrome1Sep 21, 2021
Three M syndrome 12Sep 11, 2021
Thrombophilia due to thrombin defect1Sep 21, 2021
Thrombophilia, X-linked, due to factor IX defect1Sep 21, 2021
Thrombophilia, histidine-rich glycoprotein-related3Sep 21, 2021
Timothy syndrome26Aug 10, 2021
Tooth agenesis, selective, 41Aug 23, 2021
Tooth agenesis, selective, 91May 19, 2021
Townes-Brocks syndrome 22Sep 11, 2021
Tremor, hereditary essential, 43Sep 21, 2021
Tricho-dento-osseous syndrome3Sep 11, 2021
Trichoepithelioma, multiple familial, 11Sep 11, 2021
Trichohepatoneurodevelopmental syndrome2Aug 10, 2021
Trichothiodystrophy 1, photosensitive6Sep 11, 2021
Trichothiodystrophy 6, nonphotosensitive1Sep 21, 2021
Trimethylaminuria5Sep 21, 2021
Triokinase and FMN cyclase deficiency syndrome5Sep 11, 2021
Tuberous sclerosis 23Aug 2, 2021
Tyrosinase-negative oculocutaneous albinism72Sep 1, 2021
Tyrosinase-positive oculocutaneous albinism1May 18, 2021
Tyrosinemia type 31Sep 21, 2021
Tyrosinemia type I22Aug 30, 2021
UDPglucose-4-epimerase deficiency1Sep 21, 2021
UV-sensitive syndrome 17Sep 11, 2021
UV-sensitive syndrome 21Sep 11, 2021
Ullrich congenital muscular dystrophy 135Sep 11, 2021
Ullrich congenital muscular dystrophy 26Sep 1, 2021
Urofacial syndrome 13Sep 21, 2021
Uruguay faciocardiomusculoskeletal syndrome1Sep 21, 2021
Usher syndrome type 171Aug 30, 2021
Usher syndrome type 1D117Aug 30, 2021
Usher syndrome type 1F60Aug 30, 2021
Usher syndrome, type 1C36Aug 23, 2021
Usher syndrome, type 2A106Sep 1, 2021
Usher syndrome, type 2C21Sep 21, 2021
Usher syndrome, type 3A2Aug 11, 2021
Usher syndrome, type 43Aug 9, 2021
Van Maldergem syndrome 16Sep 11, 2021
Van Maldergem syndrome 215Sep 21, 2021
Van der Woude syndrome 22Sep 21, 2021
Vascular malformation, primary intraosseous1Sep 11, 2021
Ventricular tachycardia, catecholaminergic polymorphic, 25Aug 10, 2021
Ventricular tachycardia, catecholaminergic polymorphic, 42Aug 10, 2021
Ventriculomegaly with cystic kidney disease16Sep 11, 2021
Vertebral, cardiac, renal, and limb defects syndrome 15Sep 21, 2021
Very long chain acyl-CoA dehydrogenase deficiency21Aug 30, 2021
Vici syndrome6Sep 11, 2021
Visceral myopathy4Aug 4, 2021
Vissers-Bodmer syndrome7Sep 1, 2021
Vitamin B12-responsive methylmalonic acidemia type cblA6Aug 20, 2021
Vitamin B12-responsive methylmalonic acidemia type cblB6Aug 30, 2021
Vitelliform macular dystrophy type 25Aug 9, 2021
Vitreoretinochoroidopathy5Aug 9, 2021
Waardenburg syndrome type 4A1Sep 11, 2021
Warburg micro syndrome 43Aug 2, 2021
Warburg-Cinotti syndrome4Sep 11, 2021
Warsaw breakage syndrome11Sep 11, 2021
Weaver syndrome4Sep 21, 2021
Webb-Dattani syndrome5Aug 9, 2021
Weill-Marchesani syndrome 14Aug 4, 2021
Weill-Marchesani syndrome 418Aug 4, 2021
Wilson disease42Aug 30, 2021
Wolcott-Rallison dysplasia6Sep 11, 2021
Wrinkly skin syndrome7Aug 9, 2021
X-Linked Mental Retardation 411Sep 21, 2021
X-linked agammaglobulinemia4Aug 9, 2021
X-linked agammaglobulinemia with growth hormone deficiency4Aug 9, 2021
X-linked chondrodysplasia punctata 18Aug 9, 2021
X-linked cone-rod dystrophy 35Aug 10, 2021
X-linked intellectual disability-hypotonic face syndrome6Aug 11, 2021
X-linked severe combined immunodeficiency4Aug 15, 2021
X-linked sideroblastic anemia with ataxia2Aug 4, 2021
X-linked spondyloepimetaphyseal dysplasia6Aug 9, 2021
XFE progeroid syndrome5Sep 11, 2021
Xeroderma pigmentosum, group D6Sep 11, 2021
Xeroderma pigmentosum, group E2Sep 11, 2021
Xeroderma pigmentosum, group F5Sep 11, 2021
Xeroderma pigmentosum, group G2Sep 11, 2021
Xia-Gibbs syndrome2Aug 4, 2021
You-Hoover-Fong syndrome8Aug 2, 2021
Yunis-Varon syndrome6Sep 21, 2021
Zimmermann-Laband syndrome 21Aug 9, 2021
Zonular pulverulent cataract 31Sep 21, 2021
alpha Thalassemia1Aug 2, 2021
beta Thalassemia16Aug 30, 2021
gamma-Glutamyltransferase deficiency1Sep 21, 2021

Testing in GTR

Disease nameNumber of tests
3 beta-Hydroxysteroid dehydrogenase deficiency1 test
3-Methylglutaconic aciduria1 test
Abetalipoproteinaemia1 test
Adrenoleukodystrophy1 test
Alpha thalassemia-mental retardation syndrome1 test
Alport syndrome1 test
Alstrom syndrome1 test
Argininosuccinate lyase deficiency1 test
Aromatase deficiency1 test
Ataxia-telangiectasia syndrome1 test
Autosomal recessive polycystic kidney disease1 test
BH4-deficient hyperphenylalaninemia A1 test
Bardet-Biedl syndrome1 test
Biotinidase deficiency1 test
Bloom syndrome1 test
Canavan Disease, Familial Form1 test
Carnitine palmitoyltransferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Carpenter syndrome1 test
Charcot-Marie-Tooth disease type 51 test
Charlevoix-Saguenay spastic ataxia1 test
Chronic granulomatous disease1 test
Citrin deficiency1 test
Citrullinemia type I1 test
Cobalamin C disease1 test
Cohen syndrome1 test
Combined malonic and methylmalonic aciduria1 test
Congenital adrenal hyperplasia1 test
Congenital amegakaryocytic thrombocytopenia1 test
Corticosterone methyloxidase type 2 deficiency1 test
Cystic fibrosis1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of alpha-mannosidase1 test
Deficiency of galactokinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Disorder of fructose metabolism1 test
Duchenne muscular dystrophy1 test
Ellis-van Creveld syndrome1 test
Emery-Dreifuss muscular dystrophy 1, X-linked1 test
Fabry disease1 test
Familial Mediterranean fever1 test
Familial dysautonomia1 test
Familial hypercholesterolemia1 test
Familial hyperinsulinism1 test
Fanconi anemia1 test
Fumarase deficiency1 test
GRACILE syndrome1 test
Galactosemia1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gaucher disease1 test
Glutaric acidemia IIA1 test
Glutaric acidemia IIC1 test
Glutaric aciduria, type 11 test
Glycogen storage disease1 test
Hemochromatosis type 2A1 test
Hereditary factor IX deficiency disease1 test
Hereditary insensitivity to pain with anhidrosis1 test
Holocarboxylase synthetase deficiency1 test
Homocystinuria1 test
Hyperlipoproteinemia1 test
Hypohidrotic ectodermal dysplasia1 test
Hypophosphatasia1 test
Isovaleric acidemia, type I1 test
Leber congenital amaurosis1 test
Leukoencephalopathy with vanishing white matter1 test
Limb-girdle muscular dystrophy1 test
Lipoid adrenal hyperplasia1 test
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Maple syrup urine disease1 test
Meckel syndrome type 11 test
Medium-chain 3-ketoacyl-CoA thiolase deficiency1 test
Megalencephalic leukoencephalopathy with subcortical cysts1 test
Menkes kinky-hair syndrome1 test
Metabolic disease1 test
Metachromatic leukodystrophy1 test
Methylcrotonyl-CoA carboxylase deficiency1 test
Methylmalonic acidemia1 test
Mitochondrial complex I deficiency1 test
Mucolipidosis1 test
Mucopolysaccharidosis1 test
Multiple sulfatase deficiency1 test
Muscle eye brain disease1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 test
Nephrotic syndrome1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Niemann-Pick disease, type C1 test
Nijmegen breakage syndrome-like disorder1 test
Nonsyndromic hearing loss and deafness1 test
Ornithine carbamoyltransferase deficiency1 test
Osteochondrodysplasia1 test
Pendred syndrome1 test
Phenylketonuria1 test
Primary ciliary dyskinesia1 test
Propionic acidemia1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase complex deficiency1 test
Renal carnitine transport defect1 test
Retinitis pigmentosa 251 test
Severe combined immunodeficiency disease1 test
Severe combined immunodeficiency due to ADA deficiency1 test
Smith-Lemli-Opitz syndrome1 test
Tay-Sachs disease1 test
Tyrosinemia type I1 test
Usher syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Wilson disease1 test
X-linked severe combined immunodeficiency1 test
Zellweger Spectrum Disorder1 test
beta Thalassemia1 test
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