Genomic Research Center (Shahid Beheshti University of Medical Sciences), GRC

General information

Genomic Research Center, GRC
Shahid Beheshti University of Medical Sciences
Taleghani General Hospital, Araabi St., Yaman Ave.,
Velenjak, Evin
Tehran
Tehran
Iran - 1985717413
http://grc.sbmu.ac.ir
Organization ID: 504864

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2485

Gene

GeneSubmissionsLast Updated
A2ML12Aug 7, 2018
AAAS2Apr 29, 2019
AARS11Apr 8, 2019
AASS1Apr 8, 2019
ABCA13Apr 8, 2019
ABCA33May 3, 2020
ABCA43Apr 8, 2019
ABCB112Apr 8, 2019
ABCB45Aug 7, 2018
ABCC31Aug 7, 2018
ABCC63Aug 7, 2018
ABCC85Aug 7, 2018
ABCD12May 3, 2020
ABCD42May 3, 2020
ABCG21Dec 18, 2017
ABHD14A-ACY12May 3, 2020
ABHD51Aug 7, 2018
ACAD93May 3, 2020
ACADM2Apr 29, 2019
ACADS4May 3, 2020
ACADSB1Dec 3, 2017
ACADVL1Dec 18, 2017
ACAT11Dec 18, 2017
ACAT21Mar 5, 2018
ACE1Apr 8, 2019
ACER31Apr 8, 2019
ACO22Apr 8, 2019
ACSF31Mar 5, 2018
ACVR11Dec 18, 2017
ACY12May 3, 2020
ADA1Aug 7, 2018
ADA21Mar 5, 2018
ADAM91May 3, 2020
ADAMTSL21May 3, 2020
ADAMTSL41Apr 8, 2019
ADCY54May 3, 2020
ADGRG11Apr 8, 2019
ADGRV17Apr 8, 2019
ADK1May 3, 2020
ADPRS1Apr 8, 2019
ADSL1Apr 8, 2019
ADSS11Apr 8, 2019
AFF41Dec 18, 2017
AFG3L23Apr 29, 2019
AGA2Apr 29, 2019
AGK1Dec 18, 2017
AGL3Apr 8, 2019
AGRN1Apr 29, 2019
AHDC13Apr 29, 2019
AHI11Apr 29, 2019
AHNAK2Apr 8, 2019
AIMP11May 3, 2020
AIPL13Apr 29, 2019
AKR1D12May 3, 2020
ALAS21Apr 29, 2019
ALDH18A11Dec 18, 2017
ALDH21Aug 7, 2018
ALDH3A22May 3, 2020
ALDH4A11Apr 29, 2019
ALDH5A12Aug 7, 2018
ALDH6A11May 3, 2020
ALDOB1Mar 5, 2018
ALG11Mar 5, 2018
ALG122May 3, 2020
ALG133Apr 8, 2019
ALG23May 3, 2020
ALG32Apr 29, 2019
ALG81May 3, 2020
ALG91Aug 7, 2018
ALMS13Aug 7, 2018
ALOX12B4May 3, 2020
ALOX151Aug 7, 2018
ALOX15B1Aug 7, 2018
ALOXE31May 3, 2020
ALS21Aug 7, 2018
ALX41Aug 7, 2018
AMPD21Apr 29, 2019
ANAPC151Aug 7, 2018
ANK32Apr 8, 2019
ANKK11Apr 29, 2019
ANKLE21Mar 5, 2018
ANKRD112Apr 8, 2019
ANO55Apr 8, 2019
ANXA11Aug 7, 2018
AP4E12Apr 29, 2019
AP4M12May 3, 2020
APC2Apr 8, 2019
APOC21Apr 8, 2019
APOC4-APOC21Apr 8, 2019
APP2Apr 29, 2019
APTX1Apr 8, 2019
AR8May 3, 2020
ARAP31Aug 7, 2018
ARCN11Apr 29, 2019
ARFGEF11Aug 7, 2018
ARFGEF21Aug 7, 2018
ARG11May 3, 2020
ARHGAP311Apr 29, 2019
ARHGDIA1Dec 18, 2017
ARHGEF101Apr 8, 2019
ARID1B2Apr 8, 2019
ARID21May 3, 2020
ARL13B4Apr 8, 2019
ARMC91Mar 5, 2018
ARSA5May 3, 2020
ARSB1Apr 29, 2019
ARSL1Dec 3, 2017
ARX1May 3, 2020
ASAH12Apr 29, 2019
ASCC11Aug 7, 2018
ASCC31May 3, 2020
ASH1L2Apr 29, 2019
ASIC4-AS11Apr 29, 2019
ASL1May 9, 2016
ASNS3Apr 8, 2019
ASPA3May 3, 2020
ASPM6Apr 8, 2019
ASS11Aug 7, 2018
ASTN21Dec 18, 2017
ASXL16Aug 7, 2018
ASXL21Apr 8, 2019
ASXL32May 3, 2020
ATAD3A3May 3, 2020
ATIC2Apr 29, 2019
ATL11Apr 29, 2019
ATM3May 3, 2020
ATOH71Oct 30, 2018
ATP13A21Apr 8, 2019
ATP2B31Apr 29, 2019
ATP6V0A42Apr 8, 2019
ATP6V1B11Apr 29, 2019
ATP7A4May 3, 2020
ATP7B5Apr 29, 2019
ATP8A22May 3, 2020
ATP8B15Apr 29, 2019
ATR2Aug 7, 2018
ATRIP4May 3, 2020
ATRIP-TREX14May 3, 2020
ATRX2May 3, 2020
ATXN21May 3, 2020
ATXN72Apr 29, 2019
AUTS21May 3, 2020
B3GALNT21Dec 3, 2017
BARD11Aug 7, 2018
BBIP11Mar 5, 2018
BBOF11May 3, 2020
BBS121Dec 18, 2017
BBS41Apr 8, 2019
BBS73May 3, 2020
BBS92Apr 29, 2019
BCKDHA3Apr 8, 2019
BCL11A1May 9, 2014
BCL11B1May 3, 2020
BCOR3Apr 8, 2019
BCR1Apr 8, 2019
BCS1L1Aug 7, 2018
BDNF1Apr 29, 2019
BDNF-AS1Apr 29, 2019
BDNF-AS11Apr 29, 2019
BICD23Apr 29, 2019
BIVM-ERCC51Dec 18, 2017
BLM1Aug 7, 2018
BMP41Apr 29, 2019
BMPER1Aug 7, 2018
BMPR1A1May 3, 2020
BMPR1B1Dec 3, 2017
BPTF1May 3, 2020
BRAF1Aug 7, 2018
BRAT11Aug 7, 2018
BRCA133May 3, 2020
BRCA227May 3, 2020
BRIP12May 3, 2020
BTD1Aug 7, 2018
C10orf1051May 3, 2020
C11orf651May 3, 2020
C12orf292Aug 7, 2018
C17orf1073Aug 7, 2018
C19orf123Apr 8, 2019
C1QTNF51May 3, 2020
C21May 3, 2020
C2CD31Mar 5, 2018
C8B1May 3, 2020
CA21Dec 3, 2017
CA3-AS11Dec 3, 2017
CACNA1A14May 3, 2020
CACNA1B2Apr 29, 2019
CACNA1C1Aug 7, 2018
CACNA1D4Apr 8, 2019
CACNA1F3Aug 7, 2018
CACNA1G9May 3, 2020
CACNA1S3Apr 29, 2019
CAMTA11Apr 8, 2019
CANT13Mar 5, 2018
CAPN31Apr 29, 2019
CARS21Apr 29, 2019
CASK2Apr 29, 2019
CASP102Aug 7, 2018
CASQ11May 3, 2020
CAV31Apr 29, 2019
CBS5May 3, 2020
CC2D1A3Apr 8, 2019
CC2D2A17Apr 29, 2019
CCDC1031Aug 7, 2018
CCDC221Apr 29, 2019
CCDC781Apr 8, 2019
CCDC88C7Apr 29, 2019
CCN61Mar 5, 2018
CCNF1Mar 5, 2018
CCT51Mar 5, 2018
CD191Apr 29, 2019
CD361Aug 7, 2018
CD592May 3, 2020
CD79A1Aug 7, 2018
CD991Apr 8, 2019
CDH11Dec 3, 2017
CDH111May 3, 2020
CDH236May 3, 2020
CDH31May 3, 2020
CDK11A1May 3, 2020
CDKL53Mar 5, 2018
CDSN1Apr 8, 2019
CDT11Aug 7, 2018
CEL1Aug 7, 2018
CENPJ1May 3, 2020
CEP1524May 3, 2020
CEP1641Apr 8, 2019
CEP2905Apr 8, 2019
CEP411Dec 18, 2017
CEP571Apr 29, 2019
CERS13May 3, 2020
CERT12Apr 8, 2019
CFHR31May 3, 2020
CFHR51Dec 18, 2017
CFTR15May 3, 2020
CFTR-AS13May 3, 2020
CHAT1Mar 5, 2018
CHD21Aug 7, 2018
CHD72Aug 7, 2018
CHEK26May 3, 2020
CHKB6Apr 29, 2019
CHKB-CPT1B6Apr 29, 2019
CHMP1A1May 3, 2020
CHMP2B1Aug 7, 2018
CHRD1Apr 8, 2019
CHRNA11Aug 7, 2018
CHRNA41Apr 8, 2019
CHRNB11Dec 18, 2017
CHRNB22May 3, 2020
CHRND5Aug 7, 2018
CHRNE5May 3, 2020
CHST32May 3, 2020
CHSY11Mar 5, 2018
CIC2May 3, 2020
CLCF11Mar 5, 2018
CLCN15Apr 8, 2019
CLCN21Apr 8, 2019
CLCNKA4Apr 29, 2019
CLCNKB3May 3, 2020
CLDN141Apr 29, 2019
CLIC52Aug 7, 2018
CLMP1Dec 3, 2017
CLN33Apr 29, 2019
CLN53Apr 29, 2019
CLN65May 3, 2020
CLN81Aug 7, 2018
CLPB1May 3, 2020
CMYA51Dec 3, 2017
CNGB31Jun 19, 2017
CNKSR21Apr 8, 2019
CNOT11Aug 7, 2018
CNTN21Apr 8, 2019
CNTNAP21Apr 29, 2019
COA82Apr 29, 2019
COCH1Dec 18, 2017
COG41May 3, 2020
COG52Apr 29, 2019
COG63Aug 7, 2018
COL10A11Mar 5, 2018
COL11A11May 3, 2020
COL11A22Apr 8, 2019
COL12A17May 3, 2020
COL13A11Mar 5, 2018
COL17A11May 3, 2020
COL18A14May 3, 2020
COL1A11Dec 18, 2017
COL1A25Apr 29, 2019
COL2A12Apr 8, 2019
COL4A11Dec 3, 2017
COL4A21Apr 8, 2019
COL4A51Apr 29, 2019
COL6A17May 3, 2020
COL6A27May 3, 2020
COL6A314Apr 8, 2019
COL7A14May 3, 2020
COL9A33May 3, 2020
COLEC111Apr 29, 2019
COLQ2Aug 7, 2018
COQ43May 3, 2020
COQ61Dec 18, 2017
COQ72Aug 7, 2018
COQ8A1May 3, 2020
COX151Apr 29, 2019
COX7B1Apr 29, 2019
CP1Mar 5, 2018
CPLANE11Dec 18, 2017
CPS12May 3, 2020
CPT1C1May 3, 2020
CPT22Apr 29, 2019
CPTP1Apr 29, 2019
CR21Apr 29, 2019
CRADD1May 3, 2020
CRB11Dec 3, 2017
CREBBP3Aug 7, 2018
CRPPA3May 3, 2020
CRPPA-AS12Aug 7, 2018
CRYAB1Apr 29, 2019
CSPP11Aug 7, 2018
CSRNP11May 3, 2020
CTC11May 3, 2020
CTF11Aug 7, 2018
CTH1Apr 29, 2019
CTNNB11May 3, 2020
CTSC1Mar 5, 2018
CTSK1May 3, 2020
CTTN1Apr 8, 2019
CUBN2May 3, 2020
CUL71Aug 7, 2018
CXXC11Aug 7, 2018
CYP11B11Aug 7, 2018
CYP1B11May 3, 2020
CYP21A22Mar 5, 2018
CYP27A11Dec 3, 2017
CYP27B11May 3, 2020
CYP2U11Dec 18, 2017
CYP2U1-AS11Dec 18, 2017
CYP4F22Apr 8, 2019
CYP7B11Aug 7, 2018
CZ1P-ASNS3Apr 8, 2019
DARS11May 3, 2020
DARS21Dec 18, 2017
DBNL1Aug 7, 2018
DBT2Dec 18, 2017
DCDC21May 3, 2020
DCHS12May 3, 2020
DCLRE1C1Dec 3, 2017
DCTN12Apr 29, 2019
DCX1May 3, 2020
DDHD23Apr 29, 2019
DDOST1May 3, 2020
DDR22Aug 7, 2018
DDX112May 3, 2020
DDX3X2Apr 8, 2019
DECR11Apr 29, 2019
DEPDC51May 3, 2020
DES1Dec 3, 2017
DGCR63May 3, 2020
DGUOK1Apr 29, 2019
DHCR72Apr 8, 2019
DHFR1Apr 29, 2019
DHTKD16Apr 29, 2019
DHX302May 3, 2020
DHX371Apr 29, 2019
DIAPH13May 3, 2020
DIAPH32May 3, 2020
DIP2B1Apr 8, 2019
DIPK1A2May 3, 2020
DIS31Aug 7, 2018
DM1-AS3May 3, 2020
DMD5May 3, 2020
DMGDH1Mar 5, 2018
DMPK5May 3, 2020
DNA21Dec 18, 2017
DNAAF41May 3, 2020
DNAAF4-CCPG11May 3, 2020
DNAH51May 3, 2020
DNAJC191Aug 7, 2018
DNAJC211Apr 8, 2019
DNASE1L11May 3, 2020
DNM1L2Apr 8, 2019
DNMT12Apr 8, 2019
DOCK31May 3, 2020
DOCK61Dec 18, 2017
DOK71Dec 3, 2017
DONSON3Aug 7, 2018
DPAGT12Apr 8, 2019
DPP62Aug 7, 2018
DSPP1May 3, 2020
DST4May 3, 2020
DSTYK1May 3, 2020
DUOX21Apr 29, 2019
DUS4L1Apr 29, 2019
DUS4L-BCAP291Apr 29, 2019
DYSF4May 3, 2020
EARS21Dec 3, 2017
ECM11Aug 7, 2018
EDA1Dec 3, 2017
EDAR11May 3, 2020
EFEMP21May 3, 2020
EFNB11Apr 8, 2019
EGR25Apr 29, 2019
EHHADH1Mar 5, 2018
EIF2B12May 3, 2020
EIF2B21Dec 3, 2017
ELP11Dec 18, 2017
EMC11May 3, 2020
ENPP21Aug 7, 2018
ENTPD11Apr 29, 2019
ENTPD1-AS11Apr 29, 2019
ENTPD51Dec 18, 2017
EP3002Apr 8, 2019
EPCAM1May 3, 2020
EPG51Mar 5, 2018
EPHA22Apr 29, 2019
ERBB32Apr 8, 2019
ERCC11Apr 29, 2019
ERCC26Apr 8, 2019
ERCC51Dec 18, 2017
ERCC66Apr 29, 2019
ERCC6-PGBD31Dec 18, 2017
ERMAP1Apr 8, 2019
ERMARD1May 3, 2020
ERN21Apr 29, 2019
ESCO21Aug 7, 2018
ETFB1Aug 7, 2018
ETFDH1May 3, 2020
EVC1May 3, 2020
EVC22Aug 7, 2018
EXOSC32Dec 3, 2017
EXOSC81Mar 5, 2018
EXT24May 3, 2020
F21May 3, 2020
F2RL21Aug 7, 2018
F71Aug 7, 2018
F81May 3, 2020
FA2H1May 3, 2020
FAAH21Dec 3, 2017
FAH2Apr 8, 2019
FAM20A1Aug 7, 2018
FANCA3May 3, 2020
FANCC1May 3, 2020
FANCG1Aug 7, 2018
FARSB1Apr 8, 2019
FAS1Sep 7, 2014
FASLG2Mar 5, 2018
FAT45Aug 7, 2018
FBLN51Dec 18, 2017
FBN17Apr 8, 2019
FBN23Apr 8, 2019
FBP12Mar 5, 2018
FBXL33Apr 29, 2019
FBXL41Dec 3, 2017
FBXO382Apr 29, 2019
FGD42Aug 7, 2018
FGFR12Apr 29, 2019
FGG1Apr 29, 2019
FHL11Mar 5, 2018
FIG49Apr 29, 2019
FKBP101Aug 25, 2016
FKBP61Apr 29, 2019
FKRP2Mar 5, 2018
FKTN1Dec 18, 2017
FLG4May 3, 2020
FLNA11Apr 29, 2019
FLNB3May 3, 2020
FLNC8May 3, 2020
FLNC-AS11Apr 8, 2019
FLVCR11May 3, 2020
FMN21Apr 29, 2019
FMNL21Aug 7, 2018
FOXG11Jun 24, 2020
FOXL21May 3, 2020
FOXP11Mar 5, 2018
FOXRED14May 3, 2020
FPGT-TNNI3K1May 3, 2020
FREM11Mar 5, 2018
FREM22Mar 5, 2018
FRMD12Apr 29, 2019
FRMPD41May 3, 2020
FRZB1Dec 18, 2017
FSCN21Apr 29, 2019
FTL1Apr 8, 2019
FTO1May 3, 2020
FUCA11Aug 7, 2018
G6PC1Mar 5, 2018
G6PC21Mar 5, 2018
G6PD1May 3, 2020
GAA3May 3, 2020
GABRB11Apr 29, 2019
GABRB21May 3, 2020
GABRB32Mar 5, 2018
GAD11May 3, 2020
GALC2May 3, 2020
GALNS4May 3, 2020
GALT1Dec 3, 2017
GAN1Apr 8, 2019
GAREM21May 3, 2020
GATA41Dec 18, 2017
GATAD13Aug 7, 2018
GATM1Mar 5, 2018
GBA5May 3, 2020
GBA23Apr 29, 2019
GCDH4Apr 8, 2019
GCH11Dec 18, 2017
GDAP13Mar 5, 2018
GDF13May 3, 2020
GEMIN41Apr 29, 2019
GFAP1Mar 5, 2018
GFM11Dec 3, 2017
GH-LCR1Apr 29, 2019
GJB13Apr 29, 2019
GJB22Aug 7, 2018
GJB41Dec 3, 2017
GJC21Apr 8, 2019
GLA1Dec 18, 2017
GLB15May 3, 2020
GLDC7May 3, 2020
GLI31Mar 5, 2018
GLRA11May 3, 2020
GLUD11Mar 5, 2018
GLUL1Aug 7, 2018
GLYCTK3Mar 5, 2018
GML1Aug 7, 2018
GMPPB1May 3, 2020
GNAI31Mar 5, 2018
GNAO13May 3, 2020
GNAT12Apr 8, 2019
GNAT21May 3, 2020
GNB11Apr 29, 2019
GNPAT1Aug 7, 2018
GNPTAB3May 3, 2020
GNPTG1Jun 19, 2017
GNRHR1Mar 5, 2018
GOLGA41Sep 26, 2014
GORAB1May 3, 2020
GPC31Aug 7, 2018
GPSM22May 3, 2020
GRIA31Apr 29, 2019
GRIN12May 3, 2020
GRIN2A1Mar 5, 2018
GRIN2D1May 3, 2020
GRK11Apr 29, 2019
GRN1May 3, 2020
GTF2H51Aug 7, 2018
GUCY2D11May 3, 2020
GUSB1Apr 29, 2019
GYG12Mar 5, 2018
GYS11Apr 8, 2019
H2BW21Dec 18, 2017
HACE11Mar 5, 2018
HADHA2May 3, 2020
HADHB2Aug 7, 2018
HBA11May 3, 2020
HBA21Dec 3, 2017
HBB6May 3, 2020
HBS1L1May 9, 2014
HCCS1May 3, 2020
HCN12May 3, 2020
HECW22Aug 7, 2018
HEMK11Apr 8, 2019
HEPACAM2Apr 29, 2019
HERC26Apr 29, 2019
HEXA5May 3, 2020
HEXB1Apr 8, 2019
HGD2May 3, 2020
HGSNAT5Apr 29, 2019
HIBCH1Dec 3, 2017
HK12May 3, 2020
HMBS1Apr 8, 2019
HMGCL1Dec 18, 2017
HMGCS21May 3, 2020
HNF1A1May 3, 2020
HNRNPDL1May 3, 2020
HNRNPU2May 3, 2020
HPD1Aug 7, 2018
HPRT11Apr 8, 2019
HPS31Mar 5, 2018
HRAS1May 3, 2020
HSD17B101Aug 7, 2018
HSD17B42May 3, 2020
HSF41Dec 3, 2017
HSPB11May 3, 2020
HSPB21Apr 29, 2019
HSPB2-C11orf521Apr 29, 2019
HSPB31Apr 8, 2019
HSPB81May 3, 2020
HSPD11Aug 7, 2018
HSPG28May 3, 2020
HTT1May 3, 2020
HUWE11Apr 8, 2019
IARS11Apr 29, 2019
IARS21Aug 7, 2018
IBA572May 3, 2020
IDS3Dec 3, 2017
IDUA4May 3, 2020
IFIH110May 3, 2020
IFT1721May 3, 2020
IFT571Mar 5, 2018
IGF1R1Apr 8, 2019
IGF2R1May 3, 2020
IGHMBP21Apr 29, 2019
IGLL11May 3, 2020
IGSF31May 3, 2020
IKBKB1Apr 8, 2019
IL11RA1Dec 3, 2017
INPP5E1Aug 7, 2018
INVS1Apr 29, 2019
IQGAP21Aug 7, 2018
IQSEC22May 3, 2020
IRF21Dec 18, 2017
IRF41Aug 7, 2018
ISCA21Apr 29, 2019
ISG151May 3, 2020
ITGA2B1Apr 8, 2019
ITGA73Apr 29, 2019
ITGA81May 3, 2020
ITGB225May 3, 2020
ITGB51Aug 7, 2018
ITPR13May 3, 2020
ITSN21May 3, 2020
IVD3May 3, 2020
JAG13May 3, 2020
JAK32Dec 18, 2017
JPH31Mar 5, 2018
KANSL14Apr 29, 2019
KAT6A3Apr 29, 2019
KAT6B1May 3, 2020
KBTBD132May 3, 2020
KCNC31Dec 3, 2017
KCND31Dec 3, 2017
KCNH12Aug 7, 2018
KCNJ102Apr 8, 2019
KCNJ112May 3, 2020
KCNJ21Apr 29, 2019
KCNK91Apr 8, 2019
KCNQ22Apr 29, 2019
KCNQ31Mar 5, 2018
KCNQ51Apr 29, 2019
KCNT14May 3, 2020
KCTD31Apr 8, 2019
KCTD71Mar 5, 2018
KDM5C2Apr 29, 2019
KIAA05861Mar 5, 2018
KIAA11091Dec 18, 2017
KIDINS2201Aug 7, 2018
KIF1A4May 3, 2020
KIF5A1Apr 8, 2019
KIF5C1Apr 29, 2019
KIF73Aug 7, 2018
KIFBP1Aug 10, 2017
KLHL31Apr 8, 2019
KLHL401Apr 8, 2019
KMT2A2May 3, 2020
KMT2B1Mar 5, 2018
KMT2C1May 3, 2020
KMT2D5May 3, 2020
KPTN1Apr 29, 2019
KRT141Aug 7, 2018
KRT162Aug 7, 2018
KRT851Apr 29, 2019
KRT91May 3, 2020
L1CAM2Aug 7, 2018
LAMA13May 3, 2020
LAMA216Apr 29, 2019
LAMA32Aug 7, 2018
LAMA41Apr 29, 2019
LAMB14May 3, 2020
LAMB21Apr 8, 2019
LAMB31Dec 18, 2017
LAMC31Aug 7, 2018
LAMP31Dec 18, 2017
LARP71Dec 3, 2017
LBR1Mar 5, 2018
LDB32Mar 5, 2018
LHFPL51Aug 7, 2018
LIG11Apr 29, 2019
LIG41Dec 18, 2017
LIMS21May 3, 2020
LINC006301Dec 18, 2017
LINS11May 3, 2020
LIX1L-AS17Apr 28, 2014
LMF11May 3, 2020
LMNA8May 3, 2020
LMNB11Apr 29, 2019
LOC1001309871Mar 5, 2018
LOC1002879441Aug 7, 2018
LOC1002895803Apr 29, 2019
LOC1005060711Dec 18, 2017
LOC1027233851Aug 7, 2018
LOC1027240583May 3, 2020
LOC1053715663May 3, 2020
LOC1053722731Dec 18, 2017
LOC1060501022Aug 10, 2017
LOC1060990626May 3, 2020
LOC1065017121Mar 5, 2018
LOC1065017133May 3, 2020
LOC1066279814Apr 29, 2019
LOC1067808002Mar 5, 2018
LOC1067998331Aug 7, 2018
LOC1068046121Dec 3, 2017
LOC1068046131May 3, 2020
LOC1070753173May 3, 2020
LOC1071335106May 3, 2020
LOC1086604061Apr 29, 2019
LOC1086639961Apr 8, 2019
LOC1089031481Dec 18, 2017
LOC1096115895Mar 5, 2018
LOC1100063192May 3, 2020
LOC1101214862Mar 5, 2018
LOC1116744722May 3, 2020
LOC1124497131Dec 3, 2017
LOC1131749821May 3, 2020
LORICRIN1Aug 7, 2018
LOXHD12Apr 8, 2019
LPCAT11May 3, 2020
LPIN11Apr 29, 2019
LPIN21Mar 5, 2018
LPL2Dec 3, 2017
LRIG22Mar 5, 2018
LRP22Apr 8, 2019
LRP42Apr 29, 2019
LRP55May 3, 2020
LRRC14B1May 3, 2020
LRRC561May 3, 2020
LRRK11Dec 3, 2017
LRTOMT1Aug 7, 2018
LTBP32Apr 8, 2019
LYRM71Apr 29, 2019
LZTFL11Dec 18, 2017
MAG1Mar 5, 2018
MAGEL21Mar 5, 2018
MAN2B11Aug 7, 2018
MANBA1Dec 3, 2017
MAPT8Apr 29, 2019
MARS22Apr 29, 2019
MARVELD21Aug 7, 2018
MASTL1Aug 7, 2018
MATN31Apr 8, 2019
MATR31Apr 29, 2019
MBOAT71Mar 5, 2018
MBTPS21Dec 18, 2017
MC1R1Dec 18, 2017
MCCC13Dec 3, 2017
MCCC22May 3, 2020
MCM21Dec 3, 2017
MCM62Aug 7, 2018
MCPH11Apr 29, 2019
MEA12May 3, 2020
MECP211May 3, 2020
MED124Aug 7, 2018
MED13L3May 3, 2020
MED171May 3, 2020
MED232May 3, 2020
MEFV3May 3, 2020
MEGF101Dec 3, 2017
MERTK2May 3, 2020
MESP21May 3, 2020
MFF1Apr 8, 2019
MFN23May 3, 2020
MFRP1May 3, 2020
MFSD81Mar 5, 2018
MGP1Apr 8, 2019
MHRT1Apr 8, 2019
MID11Dec 18, 2017
MID21Mar 5, 2018
MILR11May 3, 2020
MIPEP2Apr 8, 2019
MIR302CHG1Dec 3, 2017
MITF1Aug 7, 2018
MKS11Dec 3, 2017
MLC13May 3, 2020
MLH12May 3, 2020
MLYCD1Mar 5, 2018
MMAA4May 3, 2020
MMAB1Dec 3, 2017
MMACHC5Apr 8, 2019
MMADHC1Mar 5, 2018
MMP131Mar 5, 2018
MMP21May 3, 2020
MMUT5May 3, 2020
MOCS13May 3, 2020
MOCS22Aug 7, 2018
MOK1Aug 7, 2018
MPDZ4Apr 29, 2019
MPLKIP2May 3, 2020
MPZ1Apr 29, 2019
MROH7-TTC41Aug 7, 2018
MRPL442May 3, 2020
MRPS221Aug 7, 2018
MSH21Apr 29, 2019
MSH31Apr 29, 2019
MST11May 3, 2020
MT-CO31Dec 3, 2017
MT-ND41Dec 3, 2017
MT-ND51Dec 3, 2017
MTAP1Apr 29, 2019
MTHFR4May 3, 2020
MTM11Apr 8, 2019
MTMR141May 3, 2020
MTO12Apr 29, 2019
MTOR1Aug 7, 2018
MTRR2Mar 5, 2018
MUTYH4May 3, 2020
MVD1Apr 29, 2019
MVK2May 3, 2020
MYH147Apr 29, 2019
MYH21Apr 29, 2019
MYH35May 3, 2020
MYH712May 3, 2020
MYH83Apr 8, 2019
MYH91Dec 18, 2017
MYHAS4Apr 29, 2019
MYO15A4May 3, 2020
MYO18B5Apr 8, 2019
MYO3A2May 3, 2020
MYO7A2May 3, 2020
MYPN1Apr 29, 2019
MYT1L1Apr 29, 2019
NAGA2May 3, 2020
NAGLU7Aug 7, 2018
NALCN6May 3, 2020
NALCN-AS11Aug 7, 2018
NARS22May 3, 2020
NAXE1Apr 8, 2019
NBAS1May 3, 2020
NCOR21Dec 3, 2017
NDE11Apr 8, 2019
NDN1Mar 5, 2018
NDP1Dec 18, 2017
NDP-AS11Dec 18, 2017
NDUFAF11Apr 8, 2019
NDUFAF62May 3, 2020
NDUFB111Apr 29, 2019
NDUFS22May 3, 2020
NDUFS31May 3, 2020
NDUFS42Aug 7, 2018
NDUFS82Dec 3, 2017
NDUFV12Apr 29, 2019
NEB9May 3, 2020
NEDD4L3Apr 29, 2019
NEK12Apr 8, 2019
NEK81Apr 29, 2019
NF14May 3, 2020
NF24Apr 29, 2019
NHLRC11May 3, 2020
NIPBL2May 3, 2020
NKX6-21Dec 18, 2017
NLRP32Apr 29, 2019
NLRP61Mar 5, 2018
NOD22Apr 29, 2019
NOTCH21Aug 7, 2018
NOTCH31Dec 3, 2017
NPC12Dec 3, 2017
NPC22May 3, 2020
NPHP42Apr 29, 2019
NPHS11May 3, 2020
NPHS21Aug 7, 2018
NPR21Apr 8, 2019
NPRL21Mar 5, 2018
NR0B11Aug 7, 2018
NR1H21Aug 7, 2018
NRL2May 3, 2020
NRXN31May 3, 2020
NSD14May 3, 2020
NT5DC11Mar 5, 2018
NTNG11Apr 29, 2019
NUBPL3Apr 29, 2019
NUCB25May 3, 2020
OBSCN1Dec 18, 2017
OBSCN-AS11Dec 18, 2017
OCLN1Apr 8, 2019
OCRL1Aug 7, 2018
OGT1Apr 29, 2019
OPA31May 3, 2020
OPHN12Apr 8, 2019
OPLAH2Apr 8, 2019
OPTN1Dec 18, 2017
ORC11Apr 29, 2019
ORC61Aug 7, 2018
OTC2May 3, 2020
OTOA3May 3, 2020
OTOF3Apr 8, 2019
P2RX51Aug 7, 2018
P2RX5-TAX1BP31Aug 7, 2018
P3H12Mar 5, 2018
PAH5May 3, 2020
PAK31Dec 3, 2017
PANK23Aug 7, 2018
PARN1May 3, 2020
PAX51Aug 7, 2018
PC2Apr 8, 2019
PCCB3May 3, 2020
PCDH121Aug 7, 2018
PCDH156May 3, 2020
PCK22May 3, 2020
PCNT2May 3, 2020
PDE11A1Dec 3, 2017
PDE4D1Aug 7, 2018
PDHA11Dec 18, 2017
PDHB1Apr 29, 2019
PDSS21May 3, 2020
PDX12Dec 18, 2017
PEPD1Dec 18, 2017
PEX17Apr 29, 2019
PEX124May 3, 2020
PEX131Dec 3, 2017
PEX262Mar 5, 2018
PGAM21Aug 7, 2018
PGAP12May 3, 2020
PGAP31Dec 18, 2017
PHEX1May 3, 2020
PHF81Mar 5, 2018
PHGDH6May 3, 2020
PHIP1Apr 8, 2019
PHKA12May 3, 2020
PHKA23Apr 29, 2019
PHKA2-AS11Apr 8, 2019
PHKB3Aug 7, 2018
PHTF11Dec 18, 2017
PHYH1Aug 7, 2018
PIBF11May 3, 2020
PIEZO14Apr 29, 2019
PIEZO211May 3, 2020
PIGL1Apr 29, 2019
PIGN4May 3, 2020
PIGO3May 3, 2020
PIGQ1Aug 7, 2018
PIGT3Apr 8, 2019
PIGW2May 3, 2020
PIK3CA2Aug 7, 2018
PIK3R11Mar 5, 2018
PKHD11May 3, 2020
PKLR2Aug 7, 2018
PLA2G68May 3, 2020
PLA2G71Mar 5, 2018
PLCB12May 3, 2020
PLD21Aug 7, 2018
PLEC3Aug 7, 2018
PLEKHG21Apr 29, 2019
PLIN11Apr 8, 2019
PLOD14May 3, 2020
PLOD31May 3, 2020
PLUT2Dec 18, 2017
PMS12May 3, 2020
PMS21May 3, 2020
PNCK1May 3, 2020
PNKD1Dec 18, 2017
PNKP1Aug 7, 2018
PNP1Dec 3, 2017
PNPLA11Jun 19, 2017
PNPLA21Aug 7, 2018
PNPLA81Apr 8, 2019
POC1A2Aug 7, 2018
POGZ2May 3, 2020
POLA12Aug 7, 2018
POLE1Mar 5, 2018
POLG14May 3, 2020
POLG21May 3, 2020
POLK2Apr 8, 2019
POLR1C3Mar 5, 2018
POLR3A2Apr 29, 2019
POLR3B2May 3, 2020
POLR3H1Aug 7, 2018
POMGNT13Apr 29, 2019
POMGNT21Apr 29, 2019
POMT23Aug 7, 2018
PPOX1May 3, 2020
PPP1R15B1Aug 7, 2018
PPP1R3B1Mar 5, 2018
PPP2R2B1Mar 5, 2018
PPP2R5D2May 3, 2020
PPT14May 3, 2020
PQBP11May 3, 2020
PRDM121Sep 11, 2019
PRDM161May 3, 2020
PREPL3May 3, 2020
PRF12May 3, 2020
PRKAG21Apr 8, 2019
PRKAR1A1Aug 7, 2018
PRKDC1Mar 5, 2018
PRKN1May 3, 2020
PRMT72May 3, 2020
PRODH4May 3, 2020
PROK21Dec 18, 2017
PROKR21Aug 7, 2018
PROM11Apr 8, 2019
PRPH21Apr 29, 2019
PRRX11Aug 7, 2018
PRSS121Apr 8, 2019
PRUNE11May 3, 2020
PRX5May 3, 2020
PSAP1May 3, 2020
PSORS1C11Apr 8, 2019
PTCH11Dec 18, 2017
PTEN2Dec 18, 2017
PTH1R2Aug 7, 2018
PTPN112Dec 18, 2017
PTPRF1Apr 29, 2019
PTPRQ1Mar 5, 2018
PUS11Aug 7, 2018
PYCR11Apr 8, 2019
PYGL2Mar 5, 2018
PYGM4May 3, 2020
PYROXD11Apr 8, 2019
QARS11Apr 8, 2019
RAB181May 3, 2020
RAB3GAP11Dec 3, 2017
RAB3GAP21Dec 3, 2017
RAB40AL1Dec 18, 2017
RAC21Apr 29, 2019
RAD503May 3, 2020
RAG21Dec 18, 2017
RAI11Apr 8, 2019
RANBP212May 3, 2020
RAPSN2Mar 5, 2018
RARB1Aug 7, 2018
RARS11Apr 8, 2019
RARS21Mar 5, 2018
RBM8A7Apr 28, 2014
RBMX1May 3, 2020
RECQL41Apr 8, 2019
REPS12May 3, 2020
RERE2Apr 29, 2019
RERG1Dec 18, 2017
RETREG11May 3, 2020
RFT11Apr 29, 2019
RGS9BP1May 3, 2020
RHBDD31Dec 3, 2017
RIF13May 3, 2020
RIMS11Apr 29, 2019
RLN31Apr 8, 2019
RNASEH2A2Mar 5, 2018
RNF171May 3, 2020
RNF1701Apr 29, 2019
RNF2161Aug 7, 2018
ROGDI1Dec 3, 2017
ROM12May 3, 2020
RORA1Apr 29, 2019
RP1L11May 3, 2020
RPE651Dec 18, 2017
RPGRIP13Aug 7, 2018
RPGRIP1L1Mar 5, 2018
RPL111Dec 3, 2017
RPL36A-HNRNPH21Dec 18, 2017
RPL52May 3, 2020
RPS6KA32Aug 7, 2018
RPS71Apr 29, 2019
RSPH11Mar 5, 2018
RTEL13Apr 8, 2019
RTEL1-TNFRSF6B3Apr 8, 2019
RTN21Mar 5, 2018
RUBCN1Mar 5, 2018
RUNX28Apr 8, 2019
RYR130May 3, 2020
SACS3Dec 3, 2017
SALL11Dec 18, 2017
SAMD95Apr 8, 2019
SARS11Apr 29, 2019
SBF13May 3, 2020
SBF22Aug 7, 2018
SBF2-AS11Dec 18, 2017
SC5D1Apr 29, 2019
SCN11A1Aug 7, 2018
SCN1A6May 3, 2020
SCN1A-AS19Aug 7, 2018
SCN2A3May 3, 2020
SCN4A2May 3, 2020
SCN5A5Aug 7, 2018
SCN8A2May 3, 2020
SCN9A10Apr 8, 2019
SCNN1A4Aug 7, 2018
SCYL11Mar 5, 2018
SDCCAG84Apr 29, 2019
SDHA5Apr 29, 2019
SDHB1Dec 18, 2017
SDHD1Apr 8, 2019
SEMA3E1May 3, 2020
SEMA4D1Aug 7, 2018
SENP61Aug 7, 2018
SEPSECS1Apr 29, 2019
SETBP14Apr 29, 2019
SETD21Apr 8, 2019
SETD61Apr 8, 2019
SETX4Apr 29, 2019
SFTPB1Aug 7, 2018
SFXN41Apr 29, 2019
SGCA1May 3, 2020
SGCG2Mar 5, 2018
SGSH6Apr 8, 2019
SH3TC21Apr 8, 2019
SHH4Mar 5, 2018
SHROOM44Apr 29, 2019
SI1Apr 29, 2019
SIGMAR11May 3, 2020
SLC11A11Apr 29, 2019
SLC11A21Apr 29, 2019
SLC12A11May 3, 2020
SLC12A31Mar 5, 2018
SLC12A51Apr 8, 2019
SLC12A61Dec 18, 2017
SLC16A23May 3, 2020
SLC17A91Aug 7, 2018
SLC19A11Aug 7, 2018
SLC19A31Dec 18, 2017
SLC1A42Aug 7, 2018
SLC22A53Aug 7, 2018
SLC25A133Apr 29, 2019
SLC25A201Aug 7, 2018
SLC25A461Mar 5, 2018
SLC26A21May 9, 2016
SLC26A44May 3, 2020
SLC29A31May 3, 2020
SLC2A22May 3, 2020
SLC2A91Aug 7, 2018
SLC34A31May 3, 2020
SLC35A22Apr 29, 2019
SLC35C11May 3, 2020
SLC38A61Aug 7, 2018
SLC3A12May 3, 2020
SLC4A111Dec 3, 2017
SLC52A22Mar 5, 2018
SLC52A31Apr 29, 2019
SLC5A11Jun 19, 2017
SLC5A23May 3, 2020
SLC6A131Mar 5, 2018
SLC6A193May 3, 2020
SLC6A31Apr 8, 2019
SLC7A141Aug 7, 2018
SLC7A14-AS11Aug 7, 2018
SLC7A72May 3, 2020
SLC7A91Mar 5, 2018
SLC9A11Apr 29, 2019
SMAD44Mar 5, 2018
SMARCA21Dec 18, 2017
SMARCA41Apr 8, 2019
SMC1A2May 3, 2020
SMC41Dec 18, 2017
SMPD13May 3, 2020
SMS1May 3, 2020
SNORD1181Aug 7, 2018
SNX142Mar 5, 2018
SON1Apr 8, 2019
SOS11May 3, 2020
SOX171Dec 18, 2017
SOX31Apr 29, 2019
SOX51Apr 8, 2019
SPAG81Apr 8, 2019
SPART1May 3, 2020
SPAST1Apr 8, 2019
SPATA223May 3, 2020
SPATA52May 3, 2020
SPEG1Apr 29, 2019
SPG111Mar 5, 2018
SPG71May 3, 2020
SPINK51Dec 18, 2017
SPR3Apr 8, 2019
SPTAN11Apr 29, 2019
SPTBN22May 3, 2020
SPTLC21Dec 18, 2017
SQSTM11Apr 8, 2019
SRD5A22Apr 8, 2019
SRPX22May 3, 2020
ST3GAL31Apr 8, 2019
ST3GAL51May 3, 2020
STAC32May 3, 2020
STIM12Apr 8, 2019
STRA61May 3, 2020
STRC2May 3, 2020
STS1Apr 29, 2019
STT3B1Dec 18, 2017
STX31May 3, 2020
STXBP11May 3, 2020
STXBP21Aug 7, 2018
STXBP5L2Apr 8, 2019
STYXL11Apr 8, 2019
SUCLA22Dec 3, 2017
SUFU2May 3, 2020
SUGCT2Apr 29, 2019
SULT1A11Apr 8, 2019
SUMF13May 3, 2020
SUOX1Apr 29, 2019
SUPT3H1Apr 8, 2019
SURF14Apr 29, 2019
SYNE122May 3, 2020
SYNE27May 3, 2020
SYNGAP12Apr 29, 2019
SYNJ17May 3, 2020
SZT22Aug 7, 2018
TAZ1May 3, 2020
TBC1D243Aug 7, 2018
TBCD5Aug 7, 2018
TBCE1Dec 3, 2017
TBCK3May 3, 2020
TBK11Apr 8, 2019
TBP1Apr 8, 2019
TCAP1Aug 7, 2018
TCF201May 3, 2020
TCF43May 3, 2020
TCIRG13Apr 8, 2019
TCOF11Dec 18, 2017
TDP21May 3, 2020
TDRD121Apr 8, 2019
TECPR22Apr 8, 2019
TELO21Apr 29, 2019
TFRC1Aug 7, 2018
TGFB11Apr 8, 2019
TGFBR21Dec 18, 2017
TGM12Apr 29, 2019
TGM61Apr 29, 2019
TH2-LCR1May 3, 2020
TH2LCRR1May 3, 2020
THBS11Dec 18, 2017
TIMM501May 3, 2020
TMC11May 3, 2020
TMEM1071Aug 7, 2018
TMEM126B1Apr 29, 2019
TMEM2312May 3, 2020
TMEM2371Dec 18, 2017
TMEM2401May 3, 2020
TMEM674May 3, 2020
TMEM941May 3, 2020
TNNI3K1May 3, 2020
TNPO32May 3, 2020
TNXB3Apr 8, 2019
TOP2A2Aug 7, 2018
TP532May 3, 2020
TPI11Apr 8, 2019
TPM23Mar 5, 2018
TPM31May 3, 2020
TPP12May 3, 2020
TRAIP1Aug 7, 2018
TRAPPC112Mar 5, 2018
TRAPPC92May 3, 2020
TRDN1May 3, 2020
TREX14May 3, 2020
TRIM321Dec 18, 2017
TRIM371Aug 7, 2018
TRIM59-IFT801Dec 18, 2017
TRIO1Apr 29, 2019
TRIOBP4Apr 29, 2019
TRIP41Apr 29, 2019
TRMU2May 3, 2020
TRPM41May 3, 2020
TRPM61May 3, 2020
TRPS12Apr 8, 2019
TRPV11Aug 7, 2018
TSC11Dec 18, 2017
TSC26Apr 8, 2019
TSEN21Dec 18, 2017
TSPAN13Apr 29, 2019
TSPYL21Apr 8, 2019
TTBK21Apr 8, 2019
TTC41Aug 7, 2018
TTN26May 3, 2020
TTN-AS111Apr 29, 2019
TTPA1Apr 29, 2019
TTR2Mar 5, 2018
TUBB2B1Apr 29, 2019
TUBGCP62Apr 29, 2019
TWNK1Apr 29, 2019
TYR2May 3, 2020
UBA11Mar 5, 2018
UBQLN21May 3, 2020
UBR11May 3, 2020
UBTF1May 3, 2020
UGT1A3Mar 5, 2018
UGT1A13Mar 5, 2018
UGT1A103Mar 5, 2018
UGT1A33Mar 5, 2018
UGT1A43Mar 5, 2018
UGT1A53Mar 5, 2018
UGT1A63Mar 5, 2018
UGT1A73Mar 5, 2018
UGT1A83Mar 5, 2018
UGT1A93Mar 5, 2018
UMPS1Dec 18, 2017
UNC13D2May 3, 2020
UNC803May 3, 2020
UPB12May 3, 2020
UROC11Apr 29, 2019
UROD2May 3, 2020
USH1C5Apr 29, 2019
USH2A2Apr 29, 2019
USP81May 3, 2020
USP9X1Mar 5, 2018
VARS24May 3, 2020
VDR1May 3, 2020
VLDLR2Mar 5, 2018
VPS13A2May 3, 2020
VPS13B6May 3, 2020
VPS13D1Apr 8, 2019
VPS33B1Aug 7, 2018
VRK11Apr 29, 2019
VSX22Aug 7, 2018
WAC1Dec 18, 2017
WASHC51Apr 8, 2019
WDR351Apr 8, 2019
WDR452Aug 7, 2018
WDR812Apr 8, 2019
WFS13Aug 7, 2018
WHRN1May 3, 2020
WNK14May 3, 2020
WNT43Aug 7, 2018
WRAP531Apr 29, 2019
XIRP12Sep 26, 2014
XPR11Apr 8, 2019
XRCC11Mar 5, 2018
XYLT21Apr 29, 2019
YARS21Apr 8, 2019
ZBTB201May 3, 2020
ZBTB421May 3, 2020
ZC3H141May 3, 2020
ZC4H21May 3, 2020
ZFYVE261Mar 5, 2018
ZKSCAN7-AS11May 3, 2020
ZNF2761Aug 7, 2018
ZNF3351Apr 29, 2019
ZNF4081Apr 8, 2019
ZNF5922Aug 7, 2018
ZNF6601May 3, 2020
ZNF660-ZNF1971May 3, 2020
ZNF7111Dec 18, 2017
ZSWIM62Apr 29, 2019

Condition

NameSubmissionsLast Updated
2,4-Dienoyl-CoA reductase deficiency1Apr 29, 2019
2-aminoadipic 2-oxoadipic aciduria4Apr 29, 2019
3 Methylcrotonyl-CoA carboxylase 1 deficiency3Dec 3, 2017
3-Methylglutaconic aciduria1Aug 7, 2018
3-Methylglutaconic aciduria type 21May 3, 2020
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency2Apr 8, 2019
3-methylcrotonyl CoA carboxylase 2 deficiency1May 3, 2020
3-methylglutaconic aciduria type 91May 3, 2020
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1May 3, 2020
3MC syndrome 21Apr 29, 2019
5-Oxoprolinase deficiency2Apr 8, 2019
ABCA4-Related Disorders2Apr 8, 2019
AGK-Related Disorders1Dec 18, 2017
AICAR transformylase/IMP cyclohydrolase deficiency2Apr 29, 2019
ALG1-CDG1Mar 5, 2018
ALG12-congenital disorder of glycosylation1Mar 5, 2018
ALG2-CDG2May 3, 2020
ALG3-CDG2Apr 29, 2019
ALKURAYA-KUCINSKAS SYNDROME1Dec 18, 2017
ARMC9-related Joubert syndrome1Mar 5, 2018
ATR-X-related syndrome1Aug 7, 2018
Abnormality of the eye1Jun 19, 2017
Acetyl-CoA acetyltransferase-2 deficiency1Mar 5, 2018
Achromatopsia 41May 3, 2020
Acrocallosal syndrome1Aug 7, 2018
Acrodysostosis 2, with or without hormone resistance1Aug 7, 2018
Acromelic frontonasal dysostosis1Mar 5, 2018
Acromesomelic dysplasia, Maroteaux type1Apr 8, 2019
Acromicric dysplasia1Mar 5, 2018
Acute alcohol sensitivity1Aug 7, 2018
Acute intermittent porphyria1Apr 8, 2019
Acute lymphoid leukemia1Aug 7, 2018
Acyl-CoA dehydrogenase family, member 9, deficiency of2May 3, 2020
Adams-Oliver syndrome 11Apr 29, 2019
Adams-Oliver syndrome 21Dec 18, 2017
Adenylosuccinate lyase deficiency1Apr 8, 2019
Adrenoleukodystrophy1Apr 8, 2019
Agammaglobulinemia, non-Bruton type1Aug 7, 2018
Age-related macular degeneration 11May 3, 2020
Age-related macular degeneration 31Dec 18, 2017
Agenesis of the corpus callosum with peripheral neuropathy1Dec 18, 2017
Agnathia-otocephaly complex1Aug 7, 2018
Aicardi Goutieres syndrome 13May 3, 2020
Aicardi Goutieres syndrome 42Mar 5, 2018
Aicardi-Goutieres syndrome 75Apr 29, 2019
Alagille syndrome 13May 3, 2020
Alagille syndrome, ATP8B1 related1Apr 29, 2019
Alazami syndrome1Dec 3, 2017
Alexander Disease1Mar 5, 2018
Alkaline ceramidase 3 deficiency1Apr 8, 2019
Alkaptonuria1Jun 19, 2017
Allan-Herndon-Dudley syndrome3May 3, 2020
Alpha thalassemia-X-linked intellectual disability syndrome1Aug 7, 2018
Alpha-N-acetylgalactosaminidase deficiency type 11May 3, 2020
Alport syndrome 1, X-linked recessive1Apr 29, 2019
Alstrom syndrome3Aug 7, 2018
Amelogenesis imperfecta type 1G1Aug 7, 2018
Amyloidogenic transthyretin amyloidosis1Mar 5, 2018
Amyotrophic lateral sclerosis2May 3, 2020
Amyotrophic lateral sclerosis 171Aug 7, 2018
Amyotrophic lateral sclerosis 211Apr 29, 2019
Amyotrophic lateral sclerosis type 111Mar 5, 2018
Amyotrophic lateral sclerosis type 42Apr 29, 2019
Andersen Tawil syndrome1Apr 29, 2019
Androgen insensitivity, partial, with breast cancer1Aug 7, 2018
Androgen resistance syndrome5May 3, 2020
Anemia, hypochromic microcytic, with iron overload 11Apr 29, 2019
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Dec 3, 2017
Anti-SEMA4D Monoclonal Antibody VX15/25031Aug 7, 2018
Apolipoprotein C2 deficiency1Apr 8, 2019
Arginase deficiency1May 3, 2020
Arginine:glycine amidinotransferase deficiency1Mar 5, 2018
Argininosuccinate lyase deficiency1May 9, 2016
Arthrogryposis, distal, with impaired proprioception and touch3May 3, 2020
Arthrogryposis, renal dysfunction, and cholestasis 11Aug 7, 2018
Asparagine synthetase deficiency3Apr 8, 2019
Aspartylglucosaminuria2Apr 29, 2019
Ataxia, sensory, autosomal dominant1Apr 29, 2019
Ataxia, spastic, 3, autosomal recessive2Apr 29, 2019
Ataxia-oculomotor apraxia 41Aug 7, 2018
Ataxia-oculomotor apraxia type 11Apr 8, 2019
Ataxia-telangiectasia syndrome2Apr 8, 2019
Atelosteogenesis type II1May 9, 2016
Atrial fibrillation, familial, 101Aug 7, 2018
Auditory neuropathy, autosomal dominant, 12May 3, 2020
Auriculocondylar syndrome 11Mar 5, 2018
Autoimmune lymphoproliferative syndrome2Mar 5, 2018
Autoimmune lymphoproliferative syndrome, type 1b1Mar 5, 2018
Autosomal dominant nonsyndromic deafness 171Dec 18, 2017
Autosomal dominant nonsyndromic deafness 61Aug 7, 2018
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12Mar 5, 2018
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 41May 3, 2020
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome1Apr 8, 2019
Autosomal recessive congenital ichthyosis 12Apr 29, 2019
Autosomal recessive congenital ichthyosis 101Jun 19, 2017
Autosomal recessive congenital ichthyosis 22May 3, 2020
Autosomal recessive cutis laxa type 1B1May 3, 2020
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome1Dec 18, 2017
Autosomal recessive hypophosphatemic bone disease1May 3, 2020
Autosomal recessive limb girdle muscular dystrophy type 2S1Mar 5, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B1May 3, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D1May 3, 2020
Autosomal recessive myogenic arthrogryposis multiplex congenita1Apr 8, 2019
Autosomal recessive osteopetrosis 13Apr 8, 2019
Autosomal recessive pseudohypoaldosteronism type 12Aug 7, 2018
Autosomal recessive sideroblastic anemia1Apr 8, 2019
Avascular necrosis of the head of femur1Dec 18, 2017
BCS1L-Related Disorders1Aug 7, 2018
BH4-deficient hyperphenylalaninemia A1Dec 18, 2017
BMP4-Related Syndromic Microphthalmia1Apr 29, 2019
Bailey-Bloch congenital myopathy1Dec 3, 2017
Bainbridge-Ropers syndrome2May 3, 2020
Bardet-Biedl syndrome1Dec 3, 2017
Bardet-Biedl syndrome 111Dec 18, 2017
Bardet-Biedl syndrome 121Dec 18, 2017
Bardet-Biedl syndrome 142Aug 7, 2018
Bardet-Biedl syndrome 161Apr 8, 2019
Bardet-Biedl syndrome 171Dec 18, 2017
Bardet-Biedl syndrome 181Mar 5, 2018
Bardet-Biedl syndrome 41Apr 8, 2019
Bardet-Biedl syndrome 73May 3, 2020
Bardet-Biedl syndrome 91Dec 18, 2017
Bartter syndrome type 33Apr 29, 2019
Bartter syndrome, type 1, antenatal1May 3, 2020
Bartter syndrome, type 4b3Apr 29, 2019
Basal ganglia calcification, idiopathic, 61Apr 8, 2019
Becker muscular dystrophy1May 3, 2020
Benign familial neonatal seizures 21Mar 5, 2018
Benign recurrent intrahepatic cholestasis type 21Apr 8, 2019
Beta-D-mannosidosis1Dec 3, 2017
Bethlem myopathy 111Apr 8, 2019
Bethlem myopathy 22Apr 29, 2019
Bifunctional peroxisomal enzyme deficiency1Dec 18, 2017
Biotin-responsive basal ganglia disease1Dec 18, 2017
Biotinidase deficiency1Aug 7, 2018
Birk-Barel syndrome1Apr 8, 2019
Blau syndrome1Apr 29, 2019
Blepharophimosis, ptosis, and epicanthus inversus1May 3, 2020
Bloom syndrome1Aug 7, 2018
Bohring-Opitz syndrome2Aug 7, 2018
Bone fragility with contractures, arterial rupture, and deafness1May 3, 2020
Bone marrow failure syndrome 31Apr 8, 2019
Boomerang dysplasia1Aug 7, 2018
Bradyopsia1May 3, 2020
Breast-ovarian cancer, familial 117May 3, 2020
Breast-ovarian cancer, familial 220May 3, 2020
Bronchiectasis with or without elevated sweat chloride 22Aug 7, 2018
Brown-Vialetto-Van Laere syndrome 11Mar 5, 2018
Brown-Vialetto-Van Laere syndrome 21Mar 5, 2018
Brugada syndrome 11Aug 7, 2018
Brugada syndrome 91Dec 3, 2017
CAPN3-Related Disorders1Apr 29, 2019
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy2May 3, 2020
CD99 Positive Neoplastic Cells Present1Apr 8, 2019
CEP290-Related Disorders1Aug 7, 2018
CFHR5 deficiency1Dec 18, 2017
CHARGE association3May 3, 2020
CHEK2-Related Cancer Susceptibility1Apr 29, 2019
CHIME syndrome1Apr 29, 2019
CHRNA1-Related Congenital Myasthenic Syndrome1Aug 7, 2018
COFFIN-SIRIS SYNDROME 61May 3, 2020
COLORECTAL CANCER4Apr 8, 2019
Carcinoma of colon1Dec 18, 2017
Cardiac valvular dysplasia, X-linked1Mar 5, 2018
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 21Apr 29, 2019
Carney complex variant1Apr 8, 2019
Carnitine acylcarnitine translocase deficiency1Aug 7, 2018
Carnitine palmitoyltransferase II deficiency2Apr 29, 2019
Carpal tunnel syndrome1Mar 5, 2018
Cataract 5 multiple types1Dec 3, 2017
Cataract 6, multiple types2Apr 29, 2019
Cataract-intellectual disability-hypogonadism syndrome1Dec 3, 2017
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia1Aug 7, 2018
Cenani-Lenz syndactyly syndrome1Apr 29, 2019
Central core myopathy4Apr 8, 2019
Cerebellar ataxia infantile with progressive external ophthalmoplegia1Dec 18, 2017
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1Apr 8, 2019
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11Mar 5, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42May 3, 2020
Cerebellar ataxia, nonprogressive, with mental retardation1Apr 8, 2019
Cerebellar atrophy, visual impairment, and psychomotor retardation1May 3, 2020
Cerebral amyloid angiopathy, APP-related1Apr 29, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11Dec 3, 2017
Cerebral palsy, spastic quadriplegic, 11May 3, 2020
Cerebrooculofacioskeletal syndrome 13Aug 7, 2018
Cerebrooculofacioskeletal syndrome 41Apr 29, 2019
Ceroid lipofuscinosis neuronal 22May 3, 2020
Ceroid lipofuscinosis, neuronal, 111May 3, 2020
Ceroid lipofuscinosis, neuronal, 3, protracted1Dec 3, 2017
Charcot-Marie-Tooth disease axonal type 2F1May 3, 2020
Charcot-Marie-Tooth disease type 2B11Mar 5, 2018
Charcot-Marie-Tooth disease type 2K1Mar 5, 2018
Charcot-Marie-Tooth disease, axonal type 2V1Mar 5, 2018
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B1Aug 7, 2018
Charcot-Marie-Tooth disease, axonal, type 2Q1Mar 5, 2018
Charcot-Marie-Tooth disease, demyelinating, type 1d2Apr 29, 2019
Charcot-Marie-Tooth disease, demyelinating, type 4F3Apr 29, 2019
Charcot-Marie-Tooth disease, recessive intermediate A1Mar 5, 2018
Charcot-Marie-Tooth disease, type 2A2A2May 3, 2020
Charcot-Marie-Tooth disease, type 4A1Mar 5, 2018
Charcot-Marie-Tooth disease, type 4B22Aug 7, 2018
Charcot-Marie-Tooth disease, type 4B33May 3, 2020
Charcot-Marie-Tooth disease, type 4H2Aug 7, 2018
Charcot-Marie-Tooth disease, type 4J2Apr 29, 2019
Charcot-Marie-Tooth disease, type 4k1Mar 5, 2018
Charlevoix-Saguenay spastic ataxia3Dec 3, 2017
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1May 3, 2020
Cholestanol storage disease1Dec 3, 2017
Cholestasis of pregnancy1Mar 5, 2018
Cholestasis, benign recurrent intrahepatic 11Mar 5, 2018
Cholestasis, intrahepatic, of pregnancy 31Mar 5, 2018
Cholestasis, progressive familial intrahepatic 11Mar 5, 2018
Chops syndrome1Dec 18, 2017
Choreoacanthocytosis2May 3, 2020
Choroidal dystrophy, central areolar 13Apr 29, 2019
Chudley-McCullough syndrome2May 3, 2020
Ciliary dyskinesia, primary, 171Aug 7, 2018
Citrullinemia type I1Aug 7, 2018
Citrullinemia type II2Apr 29, 2019
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Mar 5, 2018
Classic homocystinuria4May 3, 2020
Cleidocranial dysostosis4Apr 8, 2019
Cockayne syndrome B3Apr 8, 2019
Coenzyme Q10 deficiency, primary, 31May 3, 2020
Coenzyme Q10 deficiency, primary, 41May 3, 2020
Coenzyme Q10 deficiency, primary, 61Dec 18, 2017
Coenzyme Q10 deficiency, primary, 73May 3, 2020
Coenzyme Q10 deficiency, primary, 82Aug 7, 2018
Coffin-Lowry syndrome1Aug 7, 2018
Coffin-Siris syndrome2Apr 8, 2019
Cohen syndrome5Apr 29, 2019
Cold-induced sweating syndrome 21Mar 5, 2018
Collagen VI-related myopathy1Aug 7, 2018
Combined immunodeficiency due to STIM1 deficiency1Apr 8, 2019
Combined malonic and methylmalonic aciduria1Mar 5, 2018
Combined oxidative phosphorylation deficiency 16May 3, 2020
Combined oxidative phosphorylation deficiency 102Apr 29, 2019
Combined oxidative phosphorylation deficiency 121Dec 3, 2017
Combined oxidative phosphorylation deficiency 181Apr 29, 2019
Combined oxidative phosphorylation deficiency 203May 3, 2020
Combined oxidative phosphorylation deficiency 271Apr 29, 2019
Combined oxidative phosphorylation deficiency 312Apr 8, 2019
Common variable immunodeficiency 31Apr 29, 2019
Common variable immunodeficiency 71Apr 29, 2019
Complement component 2 deficiency1May 3, 2020
Cone-rod dystrophy 131Aug 7, 2018
Cone-rod dystrophy 21Apr 29, 2019
Cone-rod dystrophy 31Dec 3, 2017
Cone-rod dystrophy 64May 3, 2020
Cone-rod dystrophy 71Apr 29, 2019
Cone-rod dystrophy 91May 3, 2020
Congenital Muscular Dystrophy, CHKB-related1Apr 8, 2019
Congenital Muscular Dystrophy, LAMA2-related1Apr 29, 2019
Congenital adrenal hypoplasia, X-linked1Aug 7, 2018
Congenital bile acid synthesis defect 22May 3, 2020
Congenital brain dysgenesis due to glutamine synthetase deficiency1Aug 7, 2018
Congenital contractural arachnodactyly2Apr 8, 2019
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Aug 7, 2018
Congenital disorder of glycosylation type 1N1Apr 29, 2019
Congenital disorder of glycosylation type 1x1Dec 18, 2017
Congenital disorder of glycosylation type 2J1May 3, 2020
Congenital disorder of glycosylation type 2L2Aug 7, 2018
Congenital disorder of glycosylation type 2i2Apr 29, 2019
Congenital disorder of glycosylation type Ir1May 3, 2020
Congenital glucose-galactose malabsorption1Jun 19, 2017
Congenital hydrocephalus 12Apr 29, 2019
Congenital hyperammonemia, type I1Apr 29, 2019
Congenital hypomyelinating neuropathy 1, autosomal recessive1Mar 5, 2018
Congenital hypomyelinating neuropathy 21Apr 29, 2019
Congenital muscular dystrophy due to partial LAMA2 deficiency2Apr 8, 2019
Congenital muscular dystrophy, LMNA-related3Apr 8, 2019
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51Mar 5, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21Aug 7, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21Aug 7, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B31Mar 5, 2018
Congenital muscular hypertrophy-cerebral syndrome1May 3, 2020
Congenital myasthenic syndrome1Mar 5, 2018
Congenital myasthenic syndrome 131Apr 8, 2019
Congenital myasthenic syndrome 4C2Aug 7, 2018
Congenital myopathy with fiber type disproportion4May 3, 2020
Congenital myotonia, autosomal dominant form3Apr 8, 2019
Congenital myotonia, autosomal recessive form2Apr 8, 2019
Congenital stationary night blindness, autosomal dominant 31Apr 8, 2019
Congenital stationary night blindness, type 2A1Aug 7, 2018
Contractures, pterygia, and variable skeletal fusions syndrome 1A1Aug 7, 2018
Corneal dystrophy, Fuchs endothelial, 31Mar 5, 2018
Corneal dystrophy-perceptive deafness syndrome1Dec 3, 2017
Cornelia de Lange syndrome 12May 3, 2020
Corpus callosum, partial agenesis of, X-linked1Aug 7, 2018
Cortical dysplasia, complex, with other brain malformations 11Apr 29, 2019
Cortical dysplasia, complex, with other brain malformations 21Apr 29, 2019
Cortical malformations, occipital1Aug 7, 2018
Costello syndrome1May 3, 2020
Craniofrontonasal syndrome1Apr 8, 2019
Craniosynostosis and dental anomalies1Dec 3, 2017
Crigler-Najjar syndrome2Mar 5, 2018
Curry-Hall syndrome1Aug 7, 2018
Cutaneous malignant melanoma 51Dec 18, 2017
Cystathioninuria1Apr 29, 2019
Cystic fibrosis11May 3, 2020
Cystinuria2Apr 29, 2019
D-2-hydroxyglutaric aciduria 11Aug 7, 2018
D-Glyceric aciduria2Dec 18, 2017
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION1Apr 29, 2019
DEAFNESS, AUTOSOMAL DOMINANT 731Mar 5, 2018
DEND syndrome1May 3, 2020
DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES1May 3, 2020
DPAGT1-CDG1Apr 8, 2019
DYSF-Related Disorders1Apr 29, 2019
Deafness enamel hypoplasia nail defects2Aug 7, 2018
Deafness, autosomal dominant 11Mar 5, 2018
Deafness, autosomal dominant 111Dec 18, 2017
Deafness, autosomal dominant 361May 3, 2020
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11May 3, 2020
Deafness, autosomal dominant 43Apr 8, 2019
Deafness, autosomal dominant 651Aug 7, 2018
Deafness, autosomal dominant 701Dec 3, 2017
Deafness, autosomal dominant 91Dec 18, 2017
Deafness, autosomal recessive 1032Aug 7, 2018
Deafness, autosomal recessive 161Sep 20, 2014
Deafness, autosomal recessive 181Mar 5, 2018
Deafness, autosomal recessive 1A2Aug 7, 2018
Deafness, autosomal recessive 222Apr 29, 2019
Deafness, autosomal recessive 232Aug 7, 2018
Deafness, autosomal recessive 284Apr 29, 2019
Deafness, autosomal recessive 291Apr 29, 2019
Deafness, autosomal recessive 33Dec 18, 2017
Deafness, autosomal recessive 301Aug 7, 2018
Deafness, autosomal recessive 311May 3, 2020
Deafness, autosomal recessive 491Aug 7, 2018
Deafness, autosomal recessive 531Apr 8, 2019
Deafness, autosomal recessive 631Aug 7, 2018
Deafness, autosomal recessive 671Aug 7, 2018
Deafness, autosomal recessive 772Apr 8, 2019
Deafness, autosomal recessive 861Aug 7, 2018
Deafness, autosomal recessive 93Apr 8, 2019
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Dec 3, 2017
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Dec 3, 2017
Deficiency of acetyl-CoA acetyltransferase1Dec 18, 2017
Deficiency of alpha-mannosidase1Aug 7, 2018
Deficiency of beta-ureidopropionase2May 3, 2020
Deficiency of butyryl-CoA dehydrogenase3May 3, 2020
Deficiency of glycerate kinase1Mar 5, 2018
Deficiency of hydroxymethylglutaryl-CoA lyase1Dec 18, 2017
Deficiency of malonyl-CoA decarboxylase1Mar 5, 2018
Deficiency of steroid 11-beta-monooxygenase1Aug 7, 2018
Dejerine-Sottas disease3Apr 29, 2019
Dermatitis, atopic, 21Dec 18, 2017
Desanto-shinawi syndrome1Dec 18, 2017
Desbuquois dysplasia 12Mar 5, 2018
Developmental delay, intellectual disability, obesity, and dysmorphic features1Apr 8, 2019
Diabetes mellitus type 24May 3, 2020
Diamond-Blackfan anemia 62May 3, 2020
Diamond-Blackfan anemia 71Dec 3, 2017
Diamond-Blackfan anemia 81Apr 29, 2019
Diaphanospondylodysostosis1Aug 7, 2018
Diaphyseal dysplasia1Apr 8, 2019
Diaphyseal medullary stenosis-bone malignancy syndrome1Apr 29, 2019
Diencephalic-mesencephalic junction dysplasia syndrome 11Aug 7, 2018
Dilated cardiomyopathy 1A2May 3, 2020
Dilated cardiomyopathy 1E1Aug 7, 2018
Dilated cardiomyopathy 1G3May 3, 2020
Dilated cardiomyopathy 1JJ1Apr 29, 2019
Dilated cardiomyopathy 1KK1Apr 29, 2019
Dilated cardiomyopathy 1S1May 3, 2020
Dimethylglycine dehydrogenase deficiency1Mar 5, 2018
Distal arthrogryposis type 1A4Apr 8, 2019
Distal arthrogryposis type 2B3May 3, 2020
Distal hereditary motor neuronopathy 2D2Apr 29, 2019
Distal hereditary motor neuronopathy type 2C1Apr 8, 2019
Distal hereditary motor neuronopathy type 7B1Apr 29, 2019
Donnai-Barrow syndrome2Apr 8, 2019
Dopa-responsive dystonia due to sepiapterin reductase deficiency2Mar 5, 2018
Duchenne muscular dystrophy3May 3, 2020
Dysequilibrium syndrome1Mar 5, 2018
Dyskeratosis congenita, autosomal recessive, 31Apr 29, 2019
Dyskeratosis congenita, autosomal recessive, 51Aug 7, 2018
Dyskinesia, familial, with facial myokymia2May 3, 2020
Dystonia 232Apr 29, 2019
Dystonia 273Aug 7, 2018
Dystonia 28, childhood-onset1Mar 5, 2018
Dystrophic epidermolysis bullosa2Aug 7, 2018
EEM syndrome1May 3, 2020
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 21Apr 29, 2019
EPIPHYSEAL DYSPLASIA, MULTIPLE, 71Mar 5, 2018
ERCC2-Related Disorders2Apr 8, 2019
ERCC6-Related Disorders1Apr 29, 2019
Early infantile epileptic encephalopathy 111Apr 29, 2019
Early infantile epileptic encephalopathy 121Mar 5, 2018
Early infantile epileptic encephalopathy 131Dec 3, 2017
Early infantile epileptic encephalopathy 142May 3, 2020
Early infantile epileptic encephalopathy 181Aug 7, 2018
Early infantile epileptic encephalopathy 23Mar 5, 2018
Early infantile epileptic encephalopathy 41May 3, 2020
Early infantile epileptic encephalopathy 51Apr 29, 2019
Early infantile epileptic encephalopathy 72Apr 29, 2019
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Apr 8, 2019
Ectodermal dysplasia, 'pure' hair-nail type1Apr 29, 2019
Ectopia lentis 2, isolated, autosomal recessive1Apr 8, 2019
Ectopia lentis, isolated, autosomal dominant1Mar 5, 2018
Ehlers-Danlos syndrome due to tenascin-X deficiency2Apr 8, 2019
Ehlers-Danlos syndrome, hydroxylysine-deficient3Apr 8, 2019
Ellis-van Creveld syndrome1Aug 7, 2018
Emery-Dreifuss muscular dystrophy 4, autosomal dominant6May 3, 2020
Emery-Dreifuss muscular dystrophy 5, autosomal dominant7May 3, 2020
Encephalopathy due to defective mitochondrial and peroxisomal fission 21Apr 8, 2019
Encephalopathy, acute, infection-induced, 3, suceptibility to1May 3, 2020
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum3Aug 7, 2018
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 11Apr 8, 2019
Encephalopathy, progressive, with amyotrophy and optic atrophy1Dec 3, 2017
Endplate acetylcholinesterase deficiency2Aug 7, 2018
Enlarged vestibular aqueduct1Apr 8, 2019
Epidermolysis bullosa simplex, Ogna type1Mar 5, 2018
Epidermolysis bullosa simplex, autosomal recessive1Aug 7, 2018
Epidermolysis bullosa simplex, autosomal recessive 21Aug 7, 2018
Epidermolytic palmoplantar keratoderma1Aug 7, 2018
Epilepsy, childhood absence 11Mar 5, 2018
Epilepsy, familial adult myoclonic, 51Apr 8, 2019
Epilepsy, familial focal, with variable foci 11May 3, 2020
Epilepsy, familial focal, with variable foci 21Mar 5, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation2May 3, 2020
Epilepsy, hearing loss, and mental retardation syndrome2May 3, 2020
Epilepsy, idiopathic generalized, susceptibility to, 141Apr 8, 2019
Epilepsy, nocturnal frontal lobe, 51Mar 5, 2018
Epilepsy, nocturnal frontal lobe, type 11Apr 8, 2019
Epilepsy, nocturnal frontal lobe, type 32May 3, 2020
Epilepsy, progressive myoclonic 32Apr 29, 2019
Epilepsy, progressive myoclonic 81Apr 8, 2019
Epileptic encephalopathy, childhood-onset1Aug 7, 2018
Epileptic encephalopathy, early infantile, 115May 3, 2020
Epileptic encephalopathy, early infantile, 241Aug 7, 2018
Epileptic encephalopathy, early infantile, 362Apr 8, 2019
Epileptic encephalopathy, early infantile, 422May 3, 2020
Epileptic encephalopathy, early infantile, 451Apr 29, 2019
Epileptic encephalopathy, early infantile, 461May 3, 2020
Epileptic encephalopathy, early infantile, 532Apr 8, 2019
Epileptic encephalopathy, early infantile, 542May 3, 2020
Epileptic encephalopathy, infantile or early childhood 21May 3, 2020
Epiphyseal dysplasia, multiple, 33May 3, 2020
Episodic ataxia type 22Aug 7, 2018
Erythrokeratodermia variabilis et progressiva 11Dec 3, 2017
Exudative vitreoretinopathy 41May 3, 2020
FG syndrome 11Aug 7, 2018
FG syndrome 22Aug 7, 2018
FIG4-Related Disorders1Aug 7, 2018
FLNA related disorders3Apr 29, 2019
FRASER SYNDROME 21Mar 5, 2018
Fabry disease1Dec 18, 2017
Factor VII deficiency1Aug 7, 2018
Failure of tooth eruption, primary1Dec 18, 2017
Familial Mediterranean fever2Apr 29, 2019
Familial X-linked hypophosphatemic vitamin D refractory rickets1May 3, 2020
Familial cancer of breast28May 3, 2020
Familial cold urticaria1Apr 29, 2019
Familial dysautonomia1Dec 18, 2017
Familial exudative vitreoretinopathy, X-linked1Dec 18, 2017
Familial hemiplegic migraine type 11Mar 5, 2018
Familial hemophagocytic lymphohistiocytosis 22May 3, 2020
Familial hemophagocytic lymphohistiocytosis 32May 3, 2020
Familial hypercholesterolemia1Apr 8, 2019
Familial hypercholesterolemia 11Mar 5, 2018
Familial hyperinsulinism2Aug 7, 2018
Familial hypertrophic cardiomyopathy 11Dec 3, 2017
Familial hypertrophic cardiomyopathy 61Apr 8, 2019
Familial hypokalemia-hypomagnesemia1Mar 5, 2018
Familial infantile myasthenia1Mar 5, 2018
Familial isolated deficiency of vitamin E1Apr 29, 2019
Familial mediterranean fever, autosomal dominant1May 3, 2020
Familial partial lipodystrophy 41Apr 8, 2019
Familial porphyria cutanea tarda1May 3, 2020
Familial renal glucosuria2May 3, 2020
Fanconi anemia, complementation group A2May 3, 2020
Fanconi anemia, complementation group C1May 3, 2020
Fanconi anemia, complementation group G1Aug 7, 2018
Fanconi renotubular syndrome 11Mar 5, 2018
Fanconi-Bickel syndrome2May 3, 2020
Farber disease1Apr 29, 2019
Fasting plasma glucose level quantitative trait locus 11Mar 5, 2018
Febrile seizures, familial, 14Apr 8, 2019
Fetal hemoglobin quantitative trait locus 51May 9, 2014
Fibrochondrogenesis 11May 3, 2020
Finnish congenital nephrotic syndrome1Dec 18, 2017
Focal cortical dysplasia type II2Aug 7, 2018
Fraser syndrome 11Mar 5, 2018
Frontometaphyseal dysplasia 12Aug 7, 2018
Frontonasal dysplasia 21Aug 7, 2018
Frontotemporal dementia2Apr 29, 2019
Fructose-biphosphatase deficiency2Mar 5, 2018
Fucosidosis2May 3, 2020
GELEOPHYSIC DYSPLASIA 31Mar 5, 2018
GLB1-Related Disorders1Apr 8, 2019
Galactosylceramide beta-galactosidase deficiency1May 3, 2020
Gallbladder disease 12Aug 7, 2018
Galloway-Mowat syndrome 12Aug 7, 2018
Gastrointestinal stromal tumor1Dec 18, 2017
Gaucher disease, perinatal lethal1Dec 3, 2017
Gaucher's disease, type 14May 3, 2020
Geleophysic dysplasia 11May 3, 2020
Geleophysic dysplasia 21Mar 5, 2018
Generalized epilepsy with febrile seizures plus, type 11Apr 29, 2019
Generalized epilepsy with febrile seizures plus, type 22May 3, 2020
Generalized epilepsy with febrile seizures plus, type 73Aug 7, 2018
Geroderma osteodysplastica1May 3, 2020
Giant axonal neuropathy 11Apr 8, 2019
Gillessen-Kaesbach-Nishimura syndrome1Aug 7, 2018
Glucocorticoid deficiency with achalasia2Apr 29, 2019
Glutaric aciduria, type 14Apr 8, 2019
Glutaryl-CoA oxidase deficiency2Apr 29, 2019
Glycogen storage disease 0, muscle1Apr 8, 2019
Glycogen storage disease IXb3Aug 7, 2018
Glycogen storage disease IXd2May 3, 2020
Glycogen storage disease XV1Mar 5, 2018
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Mar 5, 2018
Glycogen storage disease type III3Apr 8, 2019
Glycogen storage disease type IXa13Apr 29, 2019
Glycogen storage disease type X1Aug 7, 2018
Glycogen storage disease, type II3May 3, 2020
Glycogen storage disease, type V4May 3, 2020
Glycogen storage disease, type VI2Mar 5, 2018
Gnathodiaphyseal dysplasia2Mar 5, 2018
Goldberg-Shprintzen megacolon syndrome1Aug 10, 2017
Gonadotropin deficiency1Mar 5, 2018
Gordon Holmes syndrome1Aug 7, 2018
Gordon's syndrome1Mar 5, 2018
Gorlin syndrome1Dec 18, 2017
Growth delay due to insulin-like growth factor I resistance1Apr 8, 2019
Growth retardation, developmental delay, coarse facies, and early death1May 3, 2020
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Apr 29, 2019
HSD10 disease1Aug 7, 2018
Hajdu-Cheney syndrome1Aug 7, 2018
Harel-Yoon syndrome3May 3, 2020
Hemophagocytic lymphohistiocytosis, familial, 51Aug 7, 2018
Hennekam lymphangiectasia-lymphedema syndrome 12Aug 7, 2018
Hepatocellular carcinoma1May 3, 2020
Hereditary breast and ovarian cancer syndrome7May 3, 2020
Hereditary cancer1Aug 10, 2017
Hereditary cancer-predisposing syndrome5May 3, 2020
Hereditary cerebral hemorrhage with amyloidosis1Apr 29, 2019
Hereditary fructosuria1Mar 5, 2018
Hereditary sensory and autonomic neuropathy type IC1Dec 18, 2017
Hereditary sensory and autonomic neuropathy type IIA4Apr 8, 2019
Hereditary sensory and autonomic neuropathy type IIB1May 3, 2020
Hereditary sensory neuropathy type 1D1Apr 29, 2019
Hereditary sensory neuropathy type IE1Apr 8, 2019
Hereditary spastic paraplegia 101Apr 8, 2019
Hereditary spastic paraplegia 121Mar 5, 2018
Hereditary spastic paraplegia 151Mar 5, 2018
Hereditary spastic paraplegia 5A6Aug 7, 2018
Hereditary spastic paraplegia 71May 3, 2020
Hereditary spastic paraplegia 85Apr 8, 2019
Hermansky-Pudlak syndrome 31Mar 5, 2018
Heterotopia, periventricular, autosomal recessive1Aug 7, 2018
Histiocytic medullary reticulosis2Dec 18, 2017
Histiocytosis-lymphadenopathy plus syndrome1May 3, 2020
Holoprosencephaly 31Mar 5, 2018
Homocystinuria due to methylene tetrahydrofolate reductase deficiency4May 3, 2020
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type2Mar 5, 2018
Huntington disease-like 21Mar 5, 2018
Hurler syndrome3May 3, 2020
Hydrocephalus2Aug 7, 2018
Hydrocephalus, congenital, 2, with or without brain or eye anomalies3Apr 29, 2019
Hydrolethalus syndrome 21Dec 3, 2017
Hyperapobetalipoproteinemia1Dec 3, 2017
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1Apr 8, 2019
Hyperekplexia 11May 3, 2020
Hyperhomocysteinemia1Apr 29, 2019
Hyperinsulinemic hypoglycemia, familial, 12Mar 5, 2018
Hyperinsulinism-hyperammonemia syndrome1Mar 5, 2018
Hyperlipoproteinemia, type I1Dec 3, 2017
Hypermethioninemia due to adenosine kinase deficiency1May 3, 2020
Hyperphosphatasia with mental retardation syndrome 41Dec 18, 2017
Hyperphosphatasia with mental retardation syndrome 51May 3, 2020
Hyperphosphatasia-intellectual disability syndrome1May 3, 2020
Hypogonadotropic hypogonadism 4 with or without anosmia1Dec 18, 2017
Hypohidrotic X-linked ectodermal dysplasia1Dec 3, 2017
Hypokalemic periodic paralysis 13Apr 29, 2019
Hypomagnesemia 1, intestinal1May 3, 2020
Hypomyelinating leukodystrophy 71Aug 7, 2018
Hypomyelination with brainstem and spinal cord involvement and leg spasticity1May 3, 2020
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1Aug 7, 2018
Hypospadias 1, X-linked1Aug 7, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 15May 3, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Mar 5, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 33May 3, 2020
IFAP syndrome with or without BRESHECK syndrome1Dec 18, 2017
INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA1Apr 29, 2019
Ichthyosis vulgaris3May 3, 2020
Imerslund-Gräsbeck syndrome1Dec 3, 2017
Immunodeficiency 151Apr 8, 2019
Immunodeficiency 26 with or without neurologic abnormalities1Mar 5, 2018
Immunodeficiency 38 with basal ganglia calcification1May 3, 2020
Immunodeficiency 461Aug 7, 2018
Indifference to pain, congenital, autosomal recessive1Mar 5, 2018
Infantile GM1 gangliosidosis2Dec 18, 2017
Infantile cerebellar-retinal degeneration2Apr 8, 2019
Infantile nephronophthisis1Apr 29, 2019
Infantile neuroaxonal dystrophy8May 3, 2020
Intellectual developmental disorder with cardiac defects and dysmorphic facies1May 3, 2020
Intellectual disability, X-linked 1061Apr 29, 2019
Intellectual disability, X-linked, syndromic, Houge type1Apr 8, 2019
Intellectual disability, autosomal dominant 452May 3, 2020
Intellectual disability, autosomal dominant 461Apr 29, 2019
Intellectual disability, autosomal dominant 522Apr 29, 2019
Intellectual disability, autosomal dominant 94May 3, 2020
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome1May 3, 2020
Intellectual disability-developmental delay-contractures syndrome1May 3, 2020
Intestinal pseudo-obstruction1Dec 3, 2017
Isolated sulfite oxidase deficiency1Apr 29, 2019
Isovaleryl-CoA dehydrogenase deficiency2May 3, 2020
JOUBERT SYNDROME 322May 3, 2020
Johanson-Blizzard syndrome1May 3, 2020
Joubert syndrome4May 3, 2020
Joubert syndrome 141Dec 18, 2017
Joubert syndrome 211Aug 7, 2018
Joubert syndrome 231Mar 5, 2018
Joubert syndrome 31Apr 29, 2019
Joubert syndrome 52Apr 8, 2019
Joubert syndrome 61Mar 5, 2018
Joubert syndrome 71Mar 5, 2018
Joubert syndrome 84Apr 8, 2019
Joubert syndrome 94Apr 29, 2019
Joubert syndrome with hepatic defect5Apr 29, 2019
Junctional epidermolysis bullosa gravis of Herlitz2Aug 7, 2018
Junctional epidermolysis bullosa, non-Herlitz type2May 3, 2020
Juvenile myelomonocytic leukemia1Mar 5, 2018
Juvenile polyposis syndrome1Mar 5, 2018
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1Mar 5, 2018
KBG syndrome2Apr 8, 2019
KCNJ10-Related Disorders1Apr 8, 2019
Kabuki syndrome 15May 3, 2020
Kallmann syndrome 31Aug 7, 2018
Keutel syndrome1Apr 8, 2019
Kleefstra syndrome 21May 3, 2020
Klippel Feil syndrome2Apr 8, 2019
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism3Apr 8, 2019
Knobloch syndrome 14May 3, 2020
Kohlschutter's syndrome1Dec 3, 2017
Koolen-de Vries syndrome4Apr 29, 2019
LIG4-Related Disorders1Dec 18, 2017
Lamb-shaffer syndrome1Apr 8, 2019
Laminin alpha 2-related dystrophy3Apr 8, 2019
Larsen syndrome, dominant type2May 3, 2020
Lathosterolosis1Apr 29, 2019
Leber congenital amaurosis 13Apr 29, 2019
Leber congenital amaurosis 21Dec 18, 2017
Leber congenital amaurosis 41Apr 29, 2019
Leber congenital amaurosis 62Aug 7, 2018
Leber congenital amaurosis 81Dec 3, 2017
Leber's optic atrophy2May 3, 2020
Left ventricular noncompaction 11Dec 18, 2017
Leigh syndrome10Apr 29, 2019
Lenz microphthalmia syndrome1Dec 3, 2017
Lesch-Nyhan syndrome1Apr 8, 2019
Lethal Kniest-like syndrome1Mar 5, 2018
Lethal congenital contracture syndrome 11Dec 18, 2017
Lethal congenital contracture syndrome 21Apr 8, 2019
Lethal multiple pterygium syndrome1Aug 7, 2018
Leukocyte adhesion deficiency 125May 3, 2020
Leukocyte adhesion deficiency type II1May 3, 2020
Leukodystrophy and acquired microcephaly with or without dystonia1Apr 29, 2019
Leukodystrophy, adult-onset, autosomal dominant1Apr 29, 2019
Leukodystrophy, hypomyelinating, 112Mar 5, 2018
Leukodystrophy, hypomyelinating, 91Apr 8, 2019
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Dec 18, 2017
Leukoencephalopathy with vanishing white matter3May 3, 2020
Lichtenstein-knorr syndrome1Apr 29, 2019
Limb-girdle muscular dystrophy, type 1G1May 3, 2020
Limb-girdle muscular dystrophy, type 2J8Apr 8, 2019
Limb-girdle muscular dystrophy, type 2L1Mar 5, 2018
Limb-girdle muscular dystrophy, type 2S1Dec 18, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C21Aug 7, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C31Mar 5, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Mar 5, 2018
Linear skin defects with multiple congenital anomalies 12May 3, 2020
Linear skin defects with multiple congenital anomalies 21Apr 29, 2019
Lipid proteinosis1Aug 7, 2018
Lissencephaly 51Dec 3, 2017
Long QT syndrome 31Aug 7, 2018
Lowe syndrome1Aug 7, 2018
Lower limb muscle weakness1Aug 7, 2018
Luscan-lumish syndrome1Apr 8, 2019
Lymphangiomyomatosis1Mar 5, 2018
Lymphedema, hereditary, III3Apr 29, 2019
Lynch syndrome I1Apr 29, 2019
Lynch syndrome II1May 3, 2020
Lysinuric protein intolerance2May 3, 2020
METHYLMALONIC ACIDURIA, mut(0) TYPE1Aug 7, 2018
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES1Aug 7, 2018
MVK-Related Disorders1Apr 29, 2019
MYH-associated polyposis1Mar 5, 2018
MYH3-Related Disorders1Apr 29, 2019
MYH7-Related Disorders7Apr 29, 2019
MYH7-related late-onset scapuloperoneal muscular dystrophy1Apr 29, 2019
MYO7A-Related Disorders1May 3, 2020
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies1Aug 7, 2018
Macrocephaly/autism syndrome1Dec 18, 2017
Macular degeneration, early-onset1Apr 8, 2019
Majeed syndrome1Mar 5, 2018
Malignant hyperthermia, susceptibility to, 14Aug 7, 2018
Mandibuloacral dysplasia with type A lipodystrophy2Apr 30, 2016
Maple syrup urine disease5Apr 8, 2019
Marden-Walker syndrome3Apr 29, 2019
Marfan lipodystrophy syndrome1Mar 5, 2018
Marfan syndrome1Mar 5, 2018
Maturity onset diabetes mellitus in young1Dec 18, 2017
Maturity-onset diabetes of the young type 81Aug 7, 2018
Meckel syndrome type 12Aug 7, 2018
Meckel syndrome type 63Apr 29, 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Apr 29, 2019
Megaconial type congenital muscular dystrophy5Apr 29, 2019
Megalencephalic leukoencephalopathy with subcortical cysts2Mar 5, 2018
Megalencephalic leukoencephalopathy with subcortical cysts 11May 3, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 2a1Apr 29, 2019
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation1Apr 29, 2019
Meier-Gorlin syndrome 11Apr 29, 2019
Meier-Gorlin syndrome 31Aug 7, 2018
Meier-Gorlin syndrome 41Aug 7, 2018
Melnick-Needles syndrome1Mar 5, 2018
Meningioma, familial1Apr 29, 2019
Menkes kinky-hair syndrome3May 3, 2020
Mental retardation 30, X-linked1Dec 3, 2017
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2Apr 8, 2019
Mental retardation and distinctive facial features with or without cardiac defects2May 3, 2020
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Apr 29, 2019
Mental retardation with language impairment and with or without autistic features1Mar 5, 2018
Mental retardation with panhypopituitarism, X-linked1Apr 29, 2019
Mental retardation, X-linked 12May 3, 2020
Mental retardation, X-linked 1011Mar 5, 2018
Mental retardation, X-linked 1022Apr 8, 2019
Mental retardation, X-linked 1041May 3, 2020
Mental retardation, X-linked 191Aug 7, 2018
Mental retardation, X-linked 99, syndromic, female-restricted1Mar 5, 2018
Mental retardation, X-linked, syndromic 131Dec 18, 2017
Mental retardation, X-linked, syndromic, Turner type1Apr 8, 2019
Mental retardation, X-linked, syndromic, wu type1Apr 29, 2019
Mental retardation, autosomal dominant 191May 3, 2020
Mental retardation, autosomal dominant 261May 3, 2020
Mental retardation, autosomal dominant 292Apr 29, 2019
Mental retardation, autosomal dominant 323Apr 29, 2019
Mental retardation, autosomal dominant 331Dec 18, 2017
Mental retardation, autosomal dominant 342Apr 8, 2019
Mental retardation, autosomal dominant 352May 3, 2020
Mental retardation, autosomal dominant 391Apr 29, 2019
Mental retardation, autosomal dominant 421Apr 29, 2019
Mental retardation, autosomal dominant 441Apr 29, 2019
Mental retardation, autosomal dominant 52Apr 29, 2019
Mental retardation, autosomal recessive 11Apr 8, 2019
Mental retardation, autosomal recessive 131Dec 3, 2017
Mental retardation, autosomal recessive 181Aug 10, 2017
Mental retardation, autosomal recessive 271May 3, 2020
Mental retardation, autosomal recessive 33Apr 8, 2019
Mental retardation, autosomal recessive 372Apr 8, 2019
Mental retardation, autosomal recessive 386Apr 29, 2019
Mental retardation, autosomal recessive 411Apr 29, 2019
Mental retardation, autosomal recessive 422May 3, 2020
Mental retardation, autosomal recessive 471Apr 29, 2019
Mental retardation, autosomal recessive 561May 3, 2020
Mental retardation, autosomal recessive 571Mar 5, 2018
Mental retardation, fra12a type2Apr 8, 2019
Mental retardation, syndromic, Claes-Jensen type, X-linked2Apr 29, 2019
Merosin deficient congenital muscular dystrophy10Apr 8, 2019
Metachromatic leukodystrophy3May 3, 2020
Metaphyseal chondrodysplasia, Schmid type1Mar 5, 2018
Metaphyseal chondrodysplasia, Spahr type1Mar 5, 2018
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly3Apr 8, 2019
Methylmalonate semialdehyde dehydrogenase deficiency1May 3, 2020
Methylmalonic acidemia with homocystinuria5Apr 8, 2019
Methylmalonic acidemia with homocystinuria cblD1Mar 5, 2018
Methylmalonic acidemia with homocystinuria, type cblJ2May 3, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency4May 3, 2020
Microcephalic osteodysplastic primordial dwarfism type II2May 3, 2020
Microcephaly 16, primary, autosomal recessive1Mar 5, 2018
Microcephaly and chorioretinopathy, autosomal recessive, 11Apr 8, 2019
Microcephaly, postnatal progressive, with seizures and brain atrophy1May 3, 2020
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1Apr 8, 2019
Microcephaly, short stature, and impaired glucose metabolism 21Aug 7, 2018
Microcephaly-micromelia syndrome2Mar 5, 2018
Microphthalmia syndromic 91May 3, 2020
Microphthalmia, isolated 21Aug 7, 2018
Microphthalmia, isolated 51May 3, 2020
Microphthalmia, isolated, with coloboma 31Aug 7, 2018
Microphthalmia, isolated, with coloboma 51Mar 5, 2018
Microphthalmia, syndromic 121Aug 7, 2018
Migraine1Mar 5, 2018
Minicore myopathy4Mar 5, 2018
Mirage syndrome2Apr 8, 2019
Mitochondrial DNA depletion syndrome 1 (MNGIE type)3Mar 5, 2018
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Dec 3, 2017
Mitochondrial DNA depletion syndrome 4B, MNGIE type2Mar 5, 2018
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)2Dec 3, 2017
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)1Apr 29, 2019
Mitochondrial complex 1 deficiency, nuclear type 191May 3, 2020
Mitochondrial complex 1 deficiency, nuclear type 212Apr 29, 2019
Mitochondrial complex 1 deficiency, nuclear type 291Apr 29, 2019
Mitochondrial complex 1 deficiency, nuclear type 41Apr 29, 2019
Mitochondrial complex 1 deficiency, nuclear type 61Apr 29, 2019
Mitochondrial complex I deficiency8May 3, 2020
Mitochondrial complex II deficiency2Apr 29, 2019
Mitochondrial complex III deficiency, nuclear type 81Apr 29, 2019
Mitochondrial complex IV deficiency2Apr 29, 2019
Mitochondrial diseases2Dec 3, 2017
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Apr 8, 2019
Mitochondrial trifunctional protein deficiency4May 3, 2020
Miyoshi muscular dystrophy 31Mar 5, 2018
Molybdenum cofactor deficiency, complementation group A2Apr 8, 2019
Molybdenum cofactor deficiency, complementation group B2Aug 7, 2018
Mosaic variegated aneuploidy syndrome 21Apr 29, 2019
Mucolipidosis type II2May 3, 2020
Mucolipidosis type III gamma1Jun 19, 2017
Mucopolysaccharidosis type 61Apr 29, 2019
Mucopolysaccharidosis type 71Apr 29, 2019
Mucopolysaccharidosis, MPS-II3Dec 3, 2017
Mucopolysaccharidosis, MPS-III-A6Apr 8, 2019
Mucopolysaccharidosis, MPS-III-B6Aug 7, 2018
Mucopolysaccharidosis, MPS-III-C3Apr 29, 2019
Mucopolysaccharidosis, MPS-III-D1Aug 7, 2018
Mucopolysaccharidosis, MPS-IV-A4May 3, 2020
Mucopolysaccharidosis, MPS-IV-B2May 3, 2020
Mulibrey nanism syndrome1Aug 7, 2018
Mullerian aplasia and hyperandrogenism1Aug 7, 2018
Multicentric osteolysis, nodulosis and arthropathy1May 3, 2020
Multiminicore Disease1Mar 5, 2018
Multiple acyl-CoA dehydrogenase deficiency1Aug 7, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 14May 3, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 31Mar 5, 2018
Multiple exostoses type 21Apr 29, 2019
Multiple mitochondrial dysfunctions syndrome 31May 3, 2020
Multiple sulfatase deficiency2May 3, 2020
Multiple system atrophy1Apr 29, 2019
Muscular dystrophy3Jun 19, 2017
Muscular dystrophy, congenital, due to ITGA7 deficiency1Apr 29, 2019
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency3May 3, 2020
Muscular dystrophy, limb-girdle, type 2W1May 3, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Dec 18, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Dec 3, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Aug 7, 2018
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71Aug 7, 2018
Myasthenia, limb-girdle, familial1Dec 3, 2017
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency1Mar 5, 2018
Myasthenic syndrome, congenital, 141Apr 29, 2019
Myasthenic syndrome, congenital, 171Apr 29, 2019
Myasthenic syndrome, congenital, 191Mar 5, 2018
Myasthenic syndrome, congenital, 222Apr 8, 2019
Myasthenic syndrome, congenital, 3a, slow-channel1Mar 5, 2018
Myasthenic syndrome, congenital, 3b, fast-channel1Mar 5, 2018
Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency1Mar 5, 2018
Myasthenic syndrome, congenital, 4a, slow-channel1Aug 7, 2018
Myasthenic syndrome, congenital, 4b, fast-channel2May 3, 2020
Myasthenic syndrome, congenital, 81Apr 29, 2019
Mycobacterium tuberculosis, susceptibility to1Apr 29, 2019
Myelodysplastic syndrome3Aug 7, 2018
Myhre syndrome2Mar 5, 2018
Myofibrillar myopathy 11Dec 3, 2017
Myofibrillar myopathy, ZASP-related1Mar 5, 2018
Myofibrillar myopathy, filamin C-related3Aug 7, 2018
Myopathy with postural muscle atrophy, X-linked2Mar 5, 2018
Myopathy, RYR1-associated2Apr 29, 2019
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1Dec 3, 2017
Myopathy, centronuclear, 12May 3, 2020
Myopathy, centronuclear, 41Apr 8, 2019
Myopathy, centronuclear, 51Apr 29, 2019
Myopathy, distal, 11Apr 29, 2019
Myopathy, distal, 45Aug 7, 2018
Myopathy, distal, 51Apr 8, 2019
Myopathy, early-onset, with fatal cardiomyopathy4May 3, 2020
Myopathy, lactic acidosis, and sideroblastic anemia 11Aug 7, 2018
Myopathy, myofibrillar, 81Apr 8, 2019
Myopathy, proximal, and ophthalmoplegia1Apr 29, 2019
Myopathy, vacuolar, with casq1 aggregates1May 3, 2020
Myotonic dystrophy1Mar 5, 2018
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 72May 3, 2020
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES1Apr 8, 2019
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES1May 3, 2020
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES1Apr 29, 2019
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES1Apr 29, 2019
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES1Apr 29, 2019
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE2May 3, 2020
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES1May 3, 2020
Nemaline myopathy 11May 3, 2020
Nemaline myopathy 28May 3, 2020
Nemaline myopathy 41Mar 5, 2018
Nemaline myopathy 62May 3, 2020
Nemaline myopathy 81Apr 8, 2019
Neonatal intrahepatic cholestasis caused by citrin deficiency1Aug 7, 2018
Neonatal pseudo-hydrocephalic progeroid syndrome1Apr 29, 2019
Neoplasm of ovary1May 3, 2020
Neoplasm of stomach2Aug 7, 2018
Neoplasm of the breast1May 3, 2020
Nephronophthisis 151Apr 8, 2019
Nephronophthisis 191May 3, 2020
Nephrotic syndrome, idiopathic, steroid-resistant1Aug 7, 2018
Netherton syndrome1Dec 18, 2017
Neu-Laxova syndrome 13Aug 7, 2018
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency1Dec 3, 2017
Neurodegeneration with brain iron accumulation 42Apr 8, 2019
Neurodegeneration with brain iron accumulation 52Aug 7, 2018
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Aug 7, 2018
Neurodevelopmental disorder with involuntary movements1Aug 7, 2018
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1May 3, 2020
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2Apr 29, 2019
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2May 3, 2020
Neurofibromatosis, type 14May 3, 2020
Neurofibromatosis, type 21Apr 29, 2019
Neurological conditions associated with aminoacylase 1 deficiency1Dec 3, 2017
Neuronal ceroid lipofuscinosis 13Mar 5, 2018
Neuronal ceroid lipofuscinosis 53Apr 29, 2019
Neuronal ceroid lipofuscinosis 65May 3, 2020
Neuronal ceroid lipofuscinosis 71Mar 5, 2018
Neuronal ceroid lipofuscinosis 81Aug 7, 2018
Neuropathy, hereditary motor and sensory, Russe type1Aug 7, 2018
Neuropathy, hereditary motor and sensory, type 6B1Mar 5, 2018
Neuropathy, hereditary sensory and autonomic, type VI1Dec 18, 2017
Neuropathy, hereditary sensory and autonomic, type VII1Aug 7, 2018
Neuropathy, hereditary sensory and autonomic, type VIII1Sep 11, 2019
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1Mar 5, 2018
Neutral 1 amino acid transport defect2Apr 29, 2019
Neutrophil immunodeficiency syndrome1Apr 29, 2019
Nicolaides-Baraitser syndrome1Dec 18, 2017
Niemann-Pick disease type C12Dec 3, 2017
Niemann-Pick disease, type A2May 3, 2020
Niemann-Pick disease, type C22May 3, 2020
Night blindness, congenital stationary, type 1g1Apr 8, 2019
Non-ketotic hyperglycinemia5May 3, 2020
Nonpersistence of intestinal lactase2Aug 7, 2018
Noonan syndrome2Dec 18, 2017
Noonan syndrome 41May 3, 2020
Noonan syndrome 71Aug 7, 2018
Occult macular dystrophy1May 3, 2020
Ocular albinism, type II1Aug 7, 2018
Oculocutaneous albinism type 1B1Aug 7, 2018
Oculofaciocardiodental syndrome1Dec 3, 2017
Oguchi's disease1Apr 29, 2019
Ohdo syndrome, X-linked3Dec 18, 2017
Opitz GBBB syndrome, type I1Dec 18, 2017
Ornithine carbamoyltransferase deficiency2May 3, 2020
Orofaciodigital syndrome 181Mar 5, 2018
Orofaciodigital syndrome xiv1Mar 5, 2018
Orotic aciduria1Dec 18, 2017
Osteoarthritis1Dec 18, 2017
Osteogenesis imperfecta1Apr 29, 2019
Osteogenesis imperfecta type 82Mar 5, 2018
Osteogenesis imperfecta type I1Dec 18, 2017
Osteogenesis imperfecta type III1Apr 29, 2019
Osteogenesis imperfecta with normal sclerae, dominant form1Apr 29, 2019
Osteogenesis imperfecta, type XI1Aug 25, 2016
Osteopetrosis with renal tubular acidosis1Dec 3, 2017
Osteoporosis with pseudoglioma3Jan 7, 2017
Osteosclerotic metaphyseal dysplasia1Dec 3, 2017
Otitis media, susceptibility to1Aug 7, 2018
PIK3CA related overgrowth spectrum1Aug 7, 2018
POLE Exonuclease Domain Mutation1Mar 5, 2018
POLG-Related Spectrum Disorders1Aug 7, 2018
POLG-related disorders2Apr 29, 2019
POMGNT1-Related Disorders1Apr 29, 2019
PRPH2-Related Disorders1Apr 29, 2019
Pachyonychia congenita 11Aug 7, 2018
Parkinson disease 20, early-onset2Apr 8, 2019
Parkinson disease, late-onset1Mar 5, 2018
Parkinsonism-dystonia, infantile, 11Apr 8, 2019
Paroxysmal familial ventricular fibrillation 11Aug 7, 2018
Paroxysmal nocturnal hemoglobinuria 11Mar 5, 2018
Paroxysmal nonkinesigenic dyskinesia 11Dec 18, 2017
Pearson syndrome1Dec 18, 2017
Pena-Shokeir syndrome type I1Mar 5, 2018
Pendred syndrome1Dec 3, 2017
Periodontitis, aggressive, 11Mar 5, 2018
Peripheral neuropathy, myopathy, hoarseness, and hearing loss3Apr 8, 2019
Periventricular nodular heterotopia 11Mar 5, 2018
Periventricular nodular heterotopia 61May 3, 2020
Periventricular nodular heterotopia 73Apr 29, 2019
Perlman syndrome1Aug 7, 2018
Peroxisome biogenesis disorder 11A1Dec 3, 2017
Peroxisome biogenesis disorder 1A (Zellweger)2Aug 7, 2018
Peroxisome biogenesis disorder 1B3Apr 29, 2019
Peroxisome biogenesis disorder 3A3May 3, 2020
Peroxisome biogenesis disorder 7A1Mar 5, 2018
Peroxisome biogenesis disorder 7B1Mar 5, 2018
Peroxisome biogenesis disorders, Zellweger syndrome spectrum1Mar 5, 2018
Perry syndrome1Apr 29, 2019
Persistent hyperplastic primary vitreous, autosomal recessive1Oct 30, 2018
Phenylketonuria5May 3, 2020
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial2May 3, 2020
Phosphoglycerate dehydrogenase deficiency3May 3, 2020
Phytanic acid storage disease1Aug 7, 2018
Pick's disease2Apr 29, 2019
Pigmentary disorder, reticulate, with systemic manifestations, X-linked2Aug 7, 2018
Pigmentary pallidal degeneration2Aug 7, 2018
Pigmented nodular adrenocortical disease, primary, 21Dec 3, 2017
Pitt-Hopkins syndrome1Mar 5, 2018
Pitt-Hopkins-like syndrome 11Apr 29, 2019
Platelet-activating factor acetylhydrolase deficiency1Mar 5, 2018
Polyarteritis nodosa, childhoood-onset1Mar 5, 2018
Polyglucosan body myopathy 21Mar 5, 2018
Polymicrogyria, bilateral frontoparietal1Apr 8, 2019
Polymicrogyria, bilateral temporooccipital2Apr 29, 2019
Pontocerebellar hypoplasia type 1A2May 3, 2020
Pontocerebellar hypoplasia type 2B1Dec 18, 2017
Pontocerebellar hypoplasia type 2D1Apr 29, 2019
Pontocerebellar hypoplasia type 61Mar 5, 2018
Pontocerebellar hypoplasia, type 1b2Dec 3, 2017
Pontocerebellar hypoplasia, type 1c1Mar 5, 2018
Pontocerebellar hypoplasia, type 91Apr 29, 2019
Porencephaly 21Apr 8, 2019
Poretti-Boltshauser syndrome3May 3, 2020
Porokeratosis 7, multiple types1Apr 29, 2019
Porokeratosis 8, disseminated superficial actinic type1Aug 7, 2018
Porphyria cutanea tarda, type I1May 3, 2020
Postaxial polydactyly type A11Mar 5, 2018
Posterior column ataxia-retinitis pigmentosa syndrome1May 3, 2020
Prader-Willi syndrome1Mar 5, 2018
Primary aldosteronism, seizures, and neurologic abnormalities2Apr 8, 2019
Primary autosomal recessive microcephaly 11Apr 29, 2019
Primary autosomal recessive microcephaly 101Apr 29, 2019
Primary autosomal recessive microcephaly 56Apr 8, 2019
Primary autosomal recessive microcephaly 61May 3, 2020
Primary autosomal recessive microcephaly 93May 3, 2020
Primary ciliary dyskinesia 241Mar 5, 2018
Primary erythromelalgia2Aug 7, 2018
Primary familial hypertrophic cardiomyopathy1Aug 7, 2018
Primary pulmonary hypertension 31Dec 3, 2017
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 61Dec 18, 2017
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41Apr 29, 2019
Progressive familial heart block type IB1May 3, 2020
Progressive familial intrahepatic cholestasis 22Aug 7, 2018
Progressive familial intrahepatic cholestasis 32Aug 7, 2018
Progressive myositis ossificans1Dec 18, 2017
Progressive pseudorheumatoid dysplasia1Mar 5, 2018
Progressive sclerosing poliodystrophy2Mar 5, 2018
Progressive supranuclear ophthalmoplegia2Apr 29, 2019
Prolidase deficiency1Dec 18, 2017
Proline dehydrogenase deficiency1Aug 7, 2018
Propionic acidemia3May 3, 2020
Prothrombin deficiency, congenital1May 3, 2020
Pseudo-Hurler polydystrophy1May 3, 2020
Pseudo-TORCH syndrome 11Apr 8, 2019
Pseudoarylsulfatase A deficiency1Aug 7, 2018
Pseudohypoaldosteronism type 2C1Aug 7, 2018
Pseudohypoaldosteronism type 2D1Apr 8, 2019
Pseudoxanthoma elasticum3Apr 29, 2019
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11Aug 7, 2018
Purine-nucleoside phosphorylase deficiency1Dec 3, 2017
Pyruvate carboxylase deficiency2Apr 8, 2019
Pyruvate dehydrogenase E1-alpha deficiency1Dec 18, 2017
Pyruvate dehydrogenase E1-beta deficiency1Apr 29, 2019
Pyruvate kinase deficiency of red cells2Aug 7, 2018
RYR1-Related Disorders4Apr 29, 2019
Radial aplasia-thrombocytopenia syndrome2Apr 12, 2014
Rajab interstitial lung disease with brain calcifications1Apr 8, 2019
Recessive dystrophic epidermolysis bullosa1Jun 19, 2017
Reduced muscle fiber perlecan1Aug 7, 2018
Renal carnitine transport defect3Aug 7, 2018
Renal dysplasia1Apr 8, 2019
Renal hypodysplasia/aplasia 11May 3, 2020
Renal hypouricemia 21Aug 7, 2018
Renal tubular acidosis with progressive nerve deafness1Apr 29, 2019
Renal tubular acidosis, distal, autosomal recessive2Apr 8, 2019
Renal-hepatic-pancreatic dysplasia 21Apr 29, 2019
Retinitis pigmentosa2May 3, 2020
Retinitis pigmentosa 301Apr 29, 2019
Retinitis pigmentosa 382May 3, 2020
Retinitis pigmentosa 411Apr 8, 2019
Retinitis pigmentosa 681Aug 7, 2018
Retinitis pigmentosa 71May 3, 2020
Retinitis pigmentosa 732Mar 5, 2018
Rett syndrome8May 3, 2020
Rett syndrome, congenital variant1Jun 24, 2020
Reynolds syndrome1Mar 5, 2018
Rhizomelic chondrodysplasia punctata type 21Aug 7, 2018
Rigidity and multifocal seizure syndrome, lethal neonatal1Aug 7, 2018
Ritscher-schinzel syndrome 21Apr 29, 2019
Roberts-SC phocomelia syndrome1Aug 7, 2018
Rokitansky Kuster Hauser syndrome1Aug 7, 2018
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2May 3, 2020
Rubinstein-Taybi syndrome1Apr 8, 2019
Rubinstein-Taybi syndrome 14Aug 7, 2018
SCHIZENCEPHALY1Mar 5, 2018
SCN5A-Related Disorders1Aug 7, 2018
SHORT syndrome1Mar 5, 2018
SLC35A2-CDG1Apr 29, 2019
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY1Dec 18, 2017
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS2Apr 29, 2019
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 261Mar 5, 2018
Salt and pepper developmental regression syndrome2May 3, 2020
Sandhoff disease1Apr 8, 2019
Schaaf-Yang syndrome1Mar 5, 2018
Schinzel-Giedion syndrome1Mar 5, 2018
Schizophrenia 41Aug 7, 2018
Schwannomatosis 11Apr 29, 2019
Schwartz-Jampel syndrome5May 3, 2020
Seckel syndrome1Aug 7, 2018
Seckel syndrome 51Mar 5, 2018
Seckel syndrome 91Aug 7, 2018
Seizures, cortical blindness, and microcephaly syndrome2May 3, 2020
Seizures, scoliosis, and macrocephaly syndrome2Apr 29, 2019
Senior-Loken syndrome 71Apr 8, 2019
Serkal syndrome1Aug 7, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type2Mar 5, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive2Dec 18, 2017
Severe myoclonic epilepsy in infancy3May 3, 2020
Severe neonatal-onset encephalopathy with microcephaly2Aug 7, 2018
Shaheen syndrome1Mar 5, 2018
Shashi-Pena syndrome1Apr 8, 2019
Short stature, brachydactyly, intellectual developmental disability, and seizures2May 3, 2020
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis2Aug 7, 2018
Short stature, optic nerve atrophy, and Pelger-Huet anomaly1May 3, 2020
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Apr 29, 2019
Short-rib thoracic dysplasia 1 with or without polydactyly2Apr 8, 2019
Simpson-Golabi-Behmel syndrome1Aug 7, 2018
Singleton-Merten syndrome 14Apr 29, 2019
Sinoatrial node dysfunction and deafness2Apr 8, 2019
Sjögren-Larsson syndrome2May 3, 2020
Skin/hair/eye pigmentation, variation in, 11Aug 7, 2018
Slowed nerve conduction velocity, autosomal dominant1Apr 8, 2019
Smith-Kingsmore syndrome1Aug 7, 2018
Smith-Lemli-Opitz syndrome2Apr 8, 2019
Smith-Magenis syndrome1Apr 8, 2019
Solitary median maxillary central incisor syndrome1Mar 5, 2018
Sotos syndrome 13May 3, 2020
Spastic ataxia 5, autosomal recessive1Mar 5, 2018
Spastic paraplegia 11, autosomal recessive1Mar 5, 2018
Spastic paraplegia 351May 3, 2020
Spastic paraplegia 4, autosomal dominant1Apr 8, 2019
Spastic paraplegia 46, autosomal recessive1Apr 29, 2019
Spastic paraplegia 49, autosomal recessive1Apr 8, 2019
Spastic paraplegia 50, autosomal recessive2May 3, 2020
Spastic paraplegia 54, autosomal recessive3Apr 29, 2019
Spastic paraplegia 64, autosomal recessive1Apr 29, 2019
Spastic paraplegia 73, autosomal dominant1May 3, 2020
Spastic paraplegia 75, autosomal recessive1Mar 5, 2018
Spastic paraplegia 78, autosomal recessive1Apr 8, 2019
Spastic paraplegia and psychomotor retardation with or without seizures1Mar 5, 2018
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Aug 7, 2018
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly2Aug 7, 2018
Spinal muscular atrophy, X-linked 21Mar 5, 2018
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant3Apr 29, 2019
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1Dec 3, 2017
Spinocerebellar ataxia 351Apr 29, 2019
Spinocerebellar ataxia 401Aug 7, 2018
Spinocerebellar ataxia 426Apr 29, 2019
Spinocerebellar ataxia 72Apr 29, 2019
Spinocerebellar ataxia type 111Apr 8, 2019
Spinocerebellar ataxia type 121Mar 5, 2018
Spinocerebellar ataxia type 131Dec 3, 2017
Spinocerebellar ataxia type 15/161Dec 3, 2017
Spinocerebellar ataxia type 171Apr 8, 2019
Spinocerebellar ataxia type 211May 3, 2020
Spinocerebellar ataxia type 282Apr 29, 2019
Spinocerebellar ataxia type 52May 3, 2020
Spinocerebellar ataxia type 63Apr 29, 2019
Spinocerebellar ataxia, X-linked 11Apr 29, 2019
Spinocerebellar ataxia, autosomal recessive 151Mar 5, 2018
Spinocerebellar ataxia, autosomal recessive 202Mar 5, 2018
Spinocerebellar ataxia, autosomal recessive 211Mar 5, 2018
Spinocerebellar ataxia, autosomal recessive 814Apr 29, 2019
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 22Apr 29, 2019
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome2Aug 7, 2018
Spondyloepiphyseal dysplasia congenita1Apr 8, 2019
Spondyloepiphyseal dysplasia with congenital joint dislocations2May 3, 2020
Spongy degeneration of central nervous system3May 3, 2020
Steinert myotonic dystrophy syndrome4May 3, 2020
Stiff skin syndrome1Mar 5, 2018
Stuttering, familial persistent 11Mar 5, 2018
Stüve-Wiedemann syndrome1Aug 7, 2018
Succinate-semialdehyde dehydrogenase deficiency2Aug 7, 2018
Sucrase-isomaltase deficiency1Apr 29, 2019
Surfactant metabolism dysfunction, pulmonary, 12Aug 7, 2018
Surfactant metabolism dysfunction, pulmonary, 32May 3, 2020
Susceptibility to malaria1Aug 7, 2018
Syndromic X-linked intellectual disability Shashi type1May 3, 2020
Syndromic X-linked intellectual disability Siderius type1Mar 5, 2018
Syndromic X-linked intellectual disability Snyder type1May 3, 2020
TREX1-Related Disorders1Apr 8, 2019
TTN-Related Disorders6Apr 29, 2019
Tangier disease1Mar 5, 2018
Tay-Sachs disease5May 3, 2020
Temple-Baraitser syndrome1Aug 7, 2018
Temtamy preaxial brachydactyly syndrome1Mar 5, 2018
Terminal osseous dysplasia1Mar 5, 2018
Tetralogy of Fallot1Dec 18, 2017
Thiel-Behnke corneal dystrophy2Aug 7, 2018
Three M syndrome 11Aug 7, 2018
Thrombocytopenia 21Aug 7, 2018
Thyroid dyshormonogenesis 61Apr 29, 2019
Timothy syndrome1Aug 7, 2018
Townes-Brocks syndrome 11Dec 18, 2017
Transposition of the great arteries, dextro-looped 11Dec 3, 2017
Treacher Collins syndrome 11Dec 18, 2017
Treacher Collins syndrome 31Mar 5, 2018
Trichorhinophalangeal dysplasia type I1Dec 18, 2017
Trichothiodystrophy1Apr 8, 2019
Trichothiodystrophy 1, photosensitive1Mar 5, 2018
Trichothiodystrophy 3, photosensitive1Aug 7, 2018
Trichothiodystrophy, nonphotosensitive 11Mar 5, 2018
Triglyceride storage disease with ichthyosis1Aug 7, 2018
Trigonocephaly 21Mar 5, 2018
Triosephosphate isomerase deficiency1Apr 8, 2019
Troyer syndrome1May 3, 2020
Tuberous sclerosis 11Dec 18, 2017
Tuberous sclerosis 22Aug 7, 2018
Tumoral calcinosis, familial, normophosphatemic1Apr 8, 2019
Tyrosinemia type 31Aug 7, 2018
Tyrosinemia type I2Apr 8, 2019
USH2A-Related Disorders1Apr 29, 2019
Ullrich congenital muscular dystrophy3Apr 29, 2019
Ullrich congenital muscular dystrophy 17May 3, 2020
Ullrich congenital muscular dystrophy 22May 3, 2020
Urocanate hydratase deficiency1Apr 29, 2019
Urofacial syndrome 22Mar 5, 2018
Usher syndrome type 12Mar 5, 2018
Usher syndrome type 1D4May 3, 2020
Usher syndrome type 1F1Aug 7, 2018
Usher syndrome, type 1C2Apr 29, 2019
Usher syndrome, type 2A1Apr 8, 2019
Usher syndrome, type 2C2Apr 8, 2019
Van Maldergem syndrome 11Aug 7, 2018
Van Maldergem syndrome 22Aug 7, 2018
Variegate porphyria1May 3, 2020
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1May 3, 2020
Vesicoureteral reflux1Dec 18, 2017
Vici syndrome1Mar 5, 2018
Vitamin B12-responsive methylmalonic acidemia type cblA4May 3, 2020
Vitamin B12-responsive methylmalonic acidemia type cblB1Dec 3, 2017
Vitamin D-dependent rickets, type 11May 3, 2020
Vohwinkel syndrome, variant form1Aug 7, 2018
WDR35-Related Disorders1Apr 8, 2019
WFS1-Related Spectrum Disorders1Dec 3, 2017
Waardenburg syndrome type 2A1Aug 7, 2018
Warburg micro syndrome 11Dec 3, 2017
Warsaw breakage syndrome2May 3, 2020
White-sutton syndrome2May 3, 2020
Wiedemann-Steiner syndrome2May 3, 2020
Wilson disease5Apr 29, 2019
X-linked chondrodysplasia punctata 11Dec 3, 2017
X-linked cone-rod dystrophy 31Aug 7, 2018
X-linked hereditary motor and sensory neuropathy2Apr 29, 2019
X-linked hydrocephalus syndrome1Aug 7, 2018
X-linked ichthyosis with steryl-sulfatase deficiency1Apr 29, 2019
X-linked intellectual disability, Stocco dos Santos type4Apr 29, 2019
Xerocytosis1Mar 5, 2018
Xeroderma pigmentosum and Cockayne syndrome complex1Dec 18, 2017
Xeroderma pigmentosum, group D1Mar 5, 2018
Xia-Gibbs syndrome3Apr 29, 2019
You-Hoover-Fong syndrome1Apr 29, 2019
Yunis-Varon syndrome2Apr 29, 2019
ZNF711-Related X-linked Mental Retardation1Dec 18, 2017
ZTTK syndrome1Apr 8, 2019
Zimmermann-Laband syndrome 11Aug 7, 2018
alpha Thalassemia2May 3, 2020
autosomal recessive PIEZO2 associated disease1Aug 7, 2018
beta Thalassemia5May 3, 2020
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1May 3, 2020
not provided198May 3, 2020
not specified171May 3, 2020

Testing in GTR

Disease nameNumber of tests
Acute lymphoid leukemia1 test
Acute myeloid leukemia1 test
Acute myeloid leukemia, M6 type1 test
Acute myelomonocytic leukemia M41 test
Acute promyelocytic leukemia1 test
Autoimmune lymphoproliferative syndrome1 test
Autosomal hypohidrotic ectodermal dysplasia2 tests
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome1 test
Beta thalassemia intermedia1 test
Beta thalassemia major1 test
Beta thalassemia minor1 test
Breast cancer, early-onset1 test
Breast cancer, familial male1 test
Breast-ovarian cancer, familial 11 test
Burkitt lymphoma1 test
Charcot-Marie-Tooth disease type 2B11 test
Chromosome 16, trisomy1 test
Chromosome 22q11.2 deletion syndrome, distal1 test
Chromosome 22q11.2 microduplication syndrome1 test
Chronic lymphocytic leukemia1 test
Chronic myelogenous leukemia, BCR-ABL1 positive1 test
Complete trisomy 13 syndrome1 test
Complete trisomy 18 syndrome1 test
Complete trisomy 21 syndrome1 test
Congenital muscular dystrophy, LMNA-related1 test
Cystic fibrosis1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dilated cardiomyopathy 1A1 test
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 3, autosomal recessive1 test
Fanconi anemia1 test
Glucocorticoid deficiency with achalasia1 test
HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED1 test
Hb SS disease1 test
Heart-hand syndrome, Slovenian type1 test
Hemoglobin H disease1 test
Hereditary breast and ovarian cancer syndrome1 test
Hereditary thrombophilia1 test
Hodgkin lymphoma1 test
Huntington disease1 test
Hutchinson-Gilford progeria syndrome, childhood-onset1 test
Lethal tight skin contracture syndrome1 test
Leukemia, post-chemotherapy, susceptibility to1 test
Limb-girdle muscular dystrophy, type 1B1 test
Lissencephaly due to LIS1 mutation1 test
Lymphoid leukemia1 test
MTHFR deficiency, thermolabile type1 test
Mandibuloacral dysplasia with type A lipodystrophy1 test
Miller Dieker syndrome1 test
Prader-Willi syndrome1 test
Smith-Magenis syndrome1 test
Steinert myotonic dystrophy syndrome1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Thalassemia intermedia1 test
Thrombophilia due to factor V Leiden1 test
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Turner syndrome1 test
Venous thrombosis1 test
Williams syndrome1 test
alpha Thalassemia1 test
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