Centre for Mendelian Genomics (University Medical Centre Ljubljana), CMG-UMCL

General information

Centre for Mendelian Genomics, CMG-UMCL
University Medical Centre Ljubljana
Slajmerjeva 3
Ljubljana
Slovenia - 1000
http://kimg.eu
Organization ID: 505952

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 4398

Gene

GeneSubmissionsLast Updated
AAAS2Nov 24, 2020
AAGAB1Nov 12, 2016
AARS13Nov 24, 2020
AARS24Nov 24, 2020
ABCA122Nov 24, 2020
ABCA449Nov 24, 2020
ABCA72Nov 24, 2020
ABCB113Nov 24, 2020
ABCB41Nov 24, 2020
ABCC21Nov 24, 2020
ABCC67Nov 24, 2020
ABCC85Nov 24, 2020
ABCC92Nov 24, 2020
ABCD17Nov 24, 2020
ABL12Nov 24, 2020
ACADM2Nov 24, 2020
ACADS1Nov 24, 2020
ACADSB1Nov 24, 2020
ACADVL3Nov 24, 2020
ACAT13Nov 24, 2020
ACMSD1Nov 24, 2020
ACO28Nov 24, 2020
ACSF31Nov 24, 2020
ACSL41Nov 24, 2020
ACTA13Nov 24, 2020
ACTA24Nov 24, 2020
ACTA2-AS12Nov 24, 2020
ACTB1Nov 24, 2020
ACTG11Nov 24, 2020
ACTL6B1Nov 24, 2020
ACTN22Nov 24, 2020
ACTN41Nov 24, 2020
ACVRL15Nov 24, 2020
ACYP11Nov 24, 2020
ADAMTSL23Nov 24, 2020
ADAR3Nov 24, 2020
ADCY52Nov 24, 2020
ADCY61Nov 24, 2020
ADGRG11Nov 24, 2020
ADGRV11Dec 8, 2017
ADNP4Nov 24, 2020
ADSL3Nov 24, 2020
AFF23Nov 24, 2020
AFG3L21Nov 24, 2020
AGA2Nov 24, 2020
AGBL11Nov 24, 2020
AGO11Nov 24, 2020
AGRN1Nov 24, 2020
AHDC12Nov 24, 2020
AIFM14Nov 24, 2020
AIRE1Nov 24, 2020
AK92Nov 24, 2020
AKAP92Nov 24, 2020
AKT11Nov 24, 2020
AKT21Nov 24, 2020
AKT32Nov 24, 2020
ALDH18A14Nov 24, 2020
ALDH5A11Nov 24, 2020
ALDH7A15Nov 24, 2020
ALDOB1Nov 24, 2020
ALG11Nov 24, 2020
ALG131Nov 12, 2016
ALG141Nov 24, 2020
ALG31Nov 24, 2020
ALG81Nov 24, 2020
ALMS11Nov 24, 2020
ALOX12B5Nov 24, 2020
ALPL6Nov 24, 2020
ALS24Nov 24, 2020
AMER12Nov 24, 2020
AMN2Dec 8, 2017
AMPD14Nov 24, 2020
AMT2Nov 24, 2020
ANK14Nov 24, 2020
ANK24Nov 24, 2020
ANK35Nov 24, 2020
ANKH1Nov 24, 2020
ANKRD1112Nov 24, 2020
ANKRD121Nov 24, 2020
ANKRD261Nov 24, 2020
ANO101Nov 24, 2020
ANO31Nov 24, 2020
ANO512Nov 24, 2020
ANTXR11Nov 24, 2020
AOPEP1Nov 24, 2020
AP4B13Nov 24, 2020
AP4B1-AS12Nov 24, 2020
AP4E12Nov 24, 2020
AP4S11Nov 24, 2020
APC6Nov 24, 2020
APOB4Nov 24, 2020
APOE2Nov 24, 2020
APP2Nov 24, 2020
AR4Nov 24, 2020
ARFGEF21Nov 24, 2020
ARHGAP311Nov 24, 2020
ARHGEF102Nov 24, 2020
ARHGEF151Nov 24, 2020
ARHGEF61Nov 24, 2020
ARHGEF91Nov 24, 2020
ARID1A3Nov 24, 2020
ARID1B18Nov 24, 2020
ARID21Nov 24, 2020
ARMCX5-GPRASP21Nov 12, 2016
ARSA7Nov 24, 2020
ARSL1Nov 24, 2020
ARVCF1Nov 24, 2020
ARX3Nov 24, 2020
ASCC32Nov 24, 2020
ASIC4-AS11Nov 24, 2020
ASS13Nov 24, 2020
ASTN23Nov 24, 2020
ASXL14Nov 24, 2020
ASXL22Nov 24, 2020
ASXL32Nov 24, 2020
ATAD3A1Nov 24, 2020
ATL13Nov 24, 2020
ATM13Nov 24, 2020
ATOH12Nov 24, 2020
ATP1A12Nov 24, 2020
ATP1A1-AS11Nov 24, 2020
ATP1A24Nov 24, 2020
ATP1A311Nov 24, 2020
ATP2A22Nov 24, 2020
ATP6AP11Nov 24, 2020
ATP6V1A2Nov 24, 2020
ATP6V1B21Nov 24, 2020
ATP7A5Nov 24, 2020
ATP7B13Nov 24, 2020
ATP8A22Nov 24, 2020
ATPAF21Nov 24, 2020
ATR4Nov 24, 2020
ATRIP2Nov 24, 2020
ATRIP-TREX12Nov 24, 2020
ATRX4Nov 24, 2020
ATXN12Nov 24, 2020
ATXN102Nov 24, 2020
ATXN22Nov 24, 2020
ATXN31Nov 24, 2020
ATXN71Nov 24, 2020
ATXN7L3-AS11Nov 24, 2020
AURKB2Nov 24, 2020
AUTS27Nov 24, 2020
AXIN21Nov 24, 2020
B3GLCT2Nov 24, 2020
B4GALNT11Nov 24, 2020
BARD15Nov 24, 2020
BBS12Nov 24, 2020
BBS102Nov 24, 2020
BBS122Nov 24, 2020
BBS41Nov 24, 2020
BBS51Nov 24, 2020
BCAP311Nov 12, 2016
BCKDHA2Nov 24, 2020
BCL11B1Nov 24, 2020
BCOR5Nov 24, 2020
BCS1L1Dec 8, 2017
BEST15Nov 24, 2020
BEX21Nov 24, 2020
BICD22Nov 24, 2020
BIVM-ERCC52Nov 24, 2020
BLOC1S1-RDH52Nov 24, 2020
BMI11Nov 24, 2020
BMP41Nov 24, 2020
BMPR1A2Nov 24, 2020
BMPR22Nov 24, 2020
BPTF3Nov 24, 2020
BRAF7Nov 24, 2020
BRAT11Nov 24, 2020
BRCA113Nov 24, 2020
BRCA222Nov 24, 2020
BRIP110Nov 24, 2020
BRPF11Nov 24, 2020
BSCL21Nov 24, 2020
BTD4Nov 24, 2020
BTK1Nov 24, 2020
BUB1B1Nov 24, 2020
C11orf654Nov 24, 2020
C12orf41Nov 24, 2020
C12orf601Nov 24, 2020
C17orf1072Nov 24, 2020
C19orf122Nov 12, 2016
C1R1Nov 24, 2020
C2CD32Nov 24, 2020
C8orf371Nov 24, 2020
CA21Nov 24, 2020
CA81Nov 24, 2020
CACNA1A13Nov 24, 2020
CACNA1C4Nov 24, 2020
CACNA1D1Nov 24, 2020
CACNA1E2Nov 24, 2020
CACNA1F5Nov 24, 2020
CACNA1G5Nov 24, 2020
CACNA1H1Dec 8, 2017
CACNA2D42Nov 24, 2020
CACNB23Nov 24, 2020
CACNG21Nov 24, 2020
CAD1Nov 24, 2020
CAMTA16Nov 24, 2020
CAPN318Nov 24, 2020
CARD141Nov 24, 2020
CARS21Nov 24, 2020
CASD11Nov 24, 2020
CASK4Nov 24, 2020
CASR4Nov 24, 2020
CASTOR32Nov 12, 2016
CATIP-AS22Nov 24, 2020
CATSPERD1Nov 24, 2020
CAV31Nov 24, 2020
CBFB1Nov 24, 2020
CBL5Nov 24, 2020
CBLIF1Nov 24, 2020
CBS4Nov 24, 2020
CC2D1A2Nov 24, 2020
CC2D2A7Nov 24, 2020
CCDC1031Nov 24, 2020
CCDC221Nov 24, 2020
CCDC405Nov 24, 2020
CCDC82Nov 24, 2020
CCDC88C1Nov 24, 2020
CCM22Dec 8, 2017
CCN61Nov 24, 2020
CCNH1Nov 24, 2020
CCNT2-AS11Nov 24, 2020
CCT31Nov 24, 2020
CCT51Nov 24, 2020
CD2AP1Nov 24, 2020
CDC731Nov 24, 2020
CDH13Nov 24, 2020
CDH235Nov 24, 2020
CDH31Nov 24, 2020
CDH81Nov 24, 2020
CDHR17Nov 24, 2020
CDK11B1Dec 8, 2017
CDK132Nov 24, 2020
CDK5RAP23Nov 24, 2020
CDKL58Nov 24, 2020
CDKN1C1Nov 24, 2020
CDKN2A2Dec 8, 2017
CDON4Nov 24, 2020
CEL1Nov 24, 2020
CENPE1Nov 24, 2020
CENPF2Nov 24, 2020
CENPJ1Nov 24, 2020
CEP1282Nov 24, 2020
CEP1522Nov 24, 2020
CEP1641Nov 24, 2020
CEP29028Nov 24, 2020
CEP781Nov 24, 2020
CEP85L1Nov 24, 2020
CERKL6Nov 24, 2020
CERS12Nov 24, 2020
CERT11Nov 24, 2020
CFAP4101Nov 24, 2020
CFH1Nov 24, 2020
CFHR51Nov 24, 2020
CFTR7Nov 24, 2020
CFTR-AS15Nov 24, 2020
CHAMP12Nov 24, 2020
CHAT3Dec 8, 2017
CHD11Nov 24, 2020
CHD26Nov 24, 2020
CHD31Nov 24, 2020
CHD43Nov 24, 2020
CHD718Nov 24, 2020
CHD85Nov 24, 2020
CHEK25Nov 24, 2020
CHKB2Nov 24, 2020
CHKB-CPT1B2Nov 24, 2020
CHM2Nov 24, 2020
CHN11Nov 24, 2020
CHRNA11Nov 24, 2020
CHRNA23Nov 24, 2020
CHRNA41Nov 24, 2020
CHRNB12Nov 24, 2020
CHRND3Nov 24, 2020
CHRNE3Nov 24, 2020
CHRNG4Nov 24, 2020
CIC7Nov 24, 2020
CILK11Nov 24, 2020
CILP1Nov 24, 2020
CIZ11Dec 8, 2017
CLCN119Nov 24, 2020
CLCN21Dec 8, 2017
CLCN52Nov 24, 2020
CLCN71Nov 24, 2020
CLCNKB7Nov 24, 2020
CLRN11Nov 24, 2020
CLTC1Nov 24, 2020
CMIP1Nov 24, 2020
CNGA11Nov 24, 2020
CNGA36Nov 24, 2020
CNGB12Nov 24, 2020
CNGB35Nov 24, 2020
CNKSR22Nov 24, 2020
CNNM23Nov 24, 2020
CNPY31Nov 24, 2020
CNPY3-GNMT1Nov 24, 2020
CNTNAP22Nov 24, 2020
COG41Nov 24, 2020
COG51Nov 24, 2020
COG71Nov 24, 2020
COL10A11Nov 24, 2020
COL11A17Nov 24, 2020
COL11A22Nov 12, 2016
COL12A15Nov 24, 2020
COL17A14Nov 24, 2020
COL18A17Nov 24, 2020
COL1A115Nov 24, 2020
COL1A28Nov 24, 2020
COL2A113Nov 24, 2020
COL3A17Nov 24, 2020
COL4A17Nov 24, 2020
COL4A28Nov 24, 2020
COL4A2-AS23Nov 24, 2020
COL4A39Nov 24, 2020
COL4A47Nov 24, 2020
COL4A516Nov 24, 2020
COL5A118Nov 24, 2020
COL5A27Nov 24, 2020
COL6A15Nov 24, 2020
COL6A23Nov 24, 2020
COL6A34Nov 24, 2020
COL7A123Nov 24, 2020
COL9A12Nov 24, 2020
COL9A21Nov 24, 2020
COL9A31Nov 24, 2020
COMMD3-BMI11Nov 24, 2020
COPB21Nov 24, 2020
COQ61Nov 24, 2020
COQ8A3Nov 24, 2020
CP1Nov 24, 2020
CPLANE19Nov 24, 2020
CPT1A3Nov 24, 2020
CPT23Nov 24, 2020
CR21Nov 24, 2020
CRB19Nov 24, 2020
CREB3L11Nov 24, 2020
CREBBP15Nov 24, 2020
CRELD11Nov 24, 2020
CRTAP1Nov 24, 2020
CRX1Nov 24, 2020
CRYAB1Nov 24, 2020
CRYBB23Nov 24, 2020
CSF1R4Nov 24, 2020
CSF3R1Nov 24, 2020
CSMD31Dec 8, 2017
CSPP11Nov 24, 2020
CSRP31Nov 24, 2020
CSTB1Dec 8, 2017
CTBP11Nov 24, 2020
CTC11Nov 24, 2020
CTDP11Nov 24, 2020
CTNNA11Nov 24, 2020
CTNNB11Dec 8, 2017
CTNND11Nov 24, 2020
CTRC1Dec 8, 2017
CTSA1Nov 24, 2020
CUL4B1Nov 12, 2016
CUL71Nov 24, 2020
CYP11B13Nov 24, 2020
CYP19A11Nov 24, 2020
CYP1B12Nov 24, 2020
CYP24A12Nov 24, 2020
CYP27A11Nov 24, 2020
CYP2R11Nov 24, 2020
CYP4F222Dec 8, 2017
CYP4V21Nov 24, 2020
CYP7B11Nov 24, 2020
DAG13Nov 24, 2020
DARS26Nov 24, 2020
DBT1Nov 24, 2020
DCAF81Nov 24, 2020
DCC1Nov 24, 2020
DCTN12Nov 24, 2020
DDC1Nov 24, 2020
DDHD21Nov 24, 2020
DDR21Nov 24, 2020
DDX3X3Nov 24, 2020
DDX583Nov 24, 2020
DEAF13Nov 24, 2020
DEPDC54Nov 24, 2020
DES2Nov 24, 2020
DGKE1Nov 24, 2020
DGKZ1Nov 24, 2020
DGUOK4Nov 24, 2020
DHCR76Nov 24, 2020
DHDDS1Nov 24, 2020
DHTKD11Nov 24, 2020
DHX301Nov 24, 2020
DIAPH13Nov 24, 2020
DICER11Nov 24, 2020
DIP2B1Nov 24, 2020
DIPK1A1Dec 8, 2017
DKC11Nov 24, 2020
DLAT2Nov 24, 2020
DLD1Nov 24, 2020
DLG31Nov 24, 2020
DLX32Nov 24, 2020
DMD27Nov 24, 2020
DMP11Nov 24, 2020
DNAH112Nov 24, 2020
DNAH54Nov 24, 2020
DNAH94Nov 24, 2020
DNAJB62Nov 24, 2020
DNHD12Nov 24, 2020
DNM11Dec 8, 2017
DNM1L1Nov 24, 2020
DNM27Nov 24, 2020
DNMT14Nov 24, 2020
DOCK84Nov 24, 2020
DOK71Nov 24, 2020
DPF21Nov 24, 2020
DPM31Nov 12, 2016
DPP61Nov 24, 2020
DSC25Nov 24, 2020
DSG12Nov 12, 2016
DSG28Nov 24, 2020
DSG2-AS12Nov 24, 2020
DSP16Nov 24, 2020
DSPP2Nov 24, 2020
DST1Nov 24, 2020
DTNA4Nov 24, 2020
DUSP292Nov 24, 2020
DUSP61Nov 24, 2020
DVL13Nov 24, 2020
DVL32Nov 24, 2020
DYNC1H118Nov 24, 2020
DYNC2H16Nov 24, 2020
DYNC2I21Nov 24, 2020
DYRK1A3Nov 24, 2020
DYSF5Nov 24, 2020
EARS21Dec 8, 2017
EBF31Nov 24, 2020
ECM11Nov 24, 2020
EDA1Dec 8, 2017
EDN31Dec 8, 2017
EED1Nov 24, 2020
EEF1A21Nov 24, 2020
EEF2KMT1Nov 24, 2020
EFEMP11Dec 8, 2017
EFNB11Dec 8, 2017
EFTUD24Nov 24, 2020
EGF1Nov 24, 2020
EHMT18Nov 24, 2020
EIF2B43Nov 24, 2020
EIF2B52Nov 24, 2020
EIF3F1Nov 24, 2020
EIF4A11Nov 24, 2020
ELN7Nov 24, 2020
ELOVL51Nov 24, 2020
ELP41Nov 24, 2020
EMD1Dec 8, 2017
ENG1Dec 8, 2017
ENO31Nov 24, 2020
ENPP11Nov 24, 2020
ENTPD11Nov 12, 2016
ENTPD1-AS11Nov 12, 2016
EP3007Nov 24, 2020
EPB41L11Nov 24, 2020
EPHA51Dec 8, 2017
EPM2A3Nov 24, 2020
ERCC24Nov 24, 2020
ERCC31Nov 24, 2020
ERCC41Nov 24, 2020
ERCC52Nov 24, 2020
ERCC65Nov 24, 2020
ERCC6-PGBD31Nov 24, 2020
ESCO21Nov 24, 2020
ESPN2Nov 24, 2020
ETFA1Nov 24, 2020
ETHE11Nov 24, 2020
EVC22Nov 24, 2020
EVI2A1Nov 24, 2020
EWSR11Nov 24, 2020
EXT13Nov 24, 2020
EXT21Nov 24, 2020
EYA13Nov 24, 2020
EYS6Nov 24, 2020
EZH21Nov 24, 2020
F122Nov 24, 2020
F21Nov 24, 2020
F72Nov 24, 2020
F82Nov 24, 2020
FAM111A1Nov 24, 2020
FAM120C1Nov 24, 2020
FAM161A1Nov 24, 2020
FAM161B1Nov 24, 2020
FAM20C1Nov 24, 2020
FANCA1Nov 24, 2020
FANCC1Nov 24, 2020
FANCE1Nov 24, 2020
FARS21Nov 24, 2020
FAS1Dec 8, 2017
FASTKD21Nov 24, 2020
FAT42Nov 24, 2020
FBLN52Nov 24, 2020
FBN136Nov 24, 2020
FBN27Nov 24, 2020
FBP11Dec 8, 2017
FBXL191Nov 24, 2020
FBXO381Nov 24, 2020
FBXW42Nov 24, 2020
FECH4Nov 24, 2020
FGD12Nov 24, 2020
FGF101Nov 24, 2020
FGF142Nov 24, 2020
FGF231Nov 24, 2020
FGF81Nov 24, 2020
FGFR13Nov 24, 2020
FGFR25Nov 24, 2020
FGFR38Nov 24, 2020
FGFR41Nov 24, 2020
FGFRL11Nov 24, 2020
FH4Nov 24, 2020
FIG47Nov 24, 2020
FKBP142Nov 24, 2020
FKBP14-AS12Nov 24, 2020
FKRP5Nov 24, 2020
FLCN2Nov 24, 2020
FLG4Nov 24, 2020
FLG-AS11Dec 8, 2017
FLNA11Nov 24, 2020
FLNB6Nov 24, 2020
FLNC12Nov 24, 2020
FLNC-AS13Nov 24, 2020
FLT43Nov 24, 2020
FLVCR21Dec 8, 2017
FMR12Nov 24, 2020
FOLR11Nov 12, 2016
FOXC12Nov 24, 2020
FOXE31Nov 24, 2020
FOXF12Nov 24, 2020
FOXG13Nov 24, 2020
FOXL21Nov 24, 2020
FOXP14Nov 24, 2020
FOXP21Nov 24, 2020
FOXRED12Nov 24, 2020
FPGT-TNNI3K3Nov 24, 2020
FRAS11Nov 24, 2020
FREM22Nov 24, 2020
FRMD4A1Nov 24, 2020
FRMPD41Nov 24, 2020
FSHR2Dec 8, 2017
FUS2Nov 24, 2020
FZD42Nov 24, 2020
G6PC13Dec 8, 2017
G6PD2Nov 24, 2020
GAA5Nov 24, 2020
GABRA11Nov 24, 2020
GABRB21Nov 24, 2020
GABRB31Nov 24, 2020
GABRD1Nov 24, 2020
GABRG21Nov 24, 2020
GAD11Nov 24, 2020
GAL1Nov 24, 2020
GALC8Nov 24, 2020
GALE1Nov 24, 2020
GALK11Nov 24, 2020
GALNS1Nov 24, 2020
GALT1Nov 24, 2020
GAREM21Nov 24, 2020
GARS13Nov 24, 2020
GATA21Dec 8, 2017
GATA31Nov 24, 2020
GATA42Nov 24, 2020
GATAD2B3Nov 24, 2020
GBA15Nov 24, 2020
GBE13Nov 24, 2020
GCDH2Nov 24, 2020
GCH12Nov 24, 2020
GCLC1Nov 24, 2020
GCOM11Dec 8, 2017
GCSH1Nov 24, 2020
GDAP13Nov 24, 2020
GDF12Nov 24, 2020
GDF31Nov 12, 2016
GDI11Nov 24, 2020
GDNF2Nov 24, 2020
GFAP4Nov 24, 2020
GFER1Nov 24, 2020
GFM14Nov 24, 2020
GH-LCR4Nov 24, 2020
GHR4Nov 24, 2020
GIGYF21Nov 24, 2020
GJA15Nov 24, 2020
GJA81Nov 24, 2020
GJB15Nov 24, 2020
GJB215Nov 24, 2020
GJB31Nov 24, 2020
GJC21Nov 24, 2020
GK1Dec 8, 2017
GLA3Nov 24, 2020
GLB11Nov 24, 2020
GLDC2Nov 24, 2020
GLDN2Dec 8, 2017
GLI27Nov 24, 2020
GLI32Nov 24, 2020
GLMN2Nov 24, 2020
GLRA12Nov 24, 2020
GLUD11Nov 24, 2020
GLYCTK2Nov 24, 2020
GML1Nov 24, 2020
GMPPB2Nov 24, 2020
GNAO11Nov 24, 2020
GNAS8Nov 24, 2020
GNAS-AS11Nov 24, 2020
GNAT12Nov 24, 2020
GNE1Nov 24, 2020
GNPAT1Nov 24, 2020
GNPTAB3Nov 24, 2020
GNRHR2Nov 24, 2020
GORAB1Nov 24, 2020
GORAB-AS11Nov 24, 2020
GPC32Nov 24, 2020
GPD1L2Nov 24, 2020
GPHN2Nov 24, 2020
GPR1432Nov 24, 2020
GPR1792Nov 24, 2020
GPRASP11Nov 12, 2016
GRHL31Nov 24, 2020
GRIA11Nov 24, 2020
GRIN14Nov 24, 2020
GRIN2A5Nov 24, 2020
GRIN2B7Nov 24, 2020
GRIP11Nov 24, 2020
GRN1Nov 24, 2020
GSDME1Dec 8, 2017
GSN1Nov 24, 2020
GTPBP33Nov 24, 2020
GUCY2C1Nov 24, 2020
GUCY2D9Nov 24, 2020
GUSB2Nov 24, 2020
GYG12Nov 24, 2020
H1-41Nov 24, 2020
H3-3A1Nov 24, 2020
HADHA1Nov 24, 2020
HADHB1Nov 24, 2020
HBA-LCR1Nov 24, 2020
HBA11Dec 8, 2017
HBA21Dec 8, 2017
HBB3Nov 24, 2020
HBD2Nov 24, 2020
HCN21Nov 24, 2020
HDAC42Nov 24, 2020
HDAC61Nov 24, 2020
HDAC86Nov 24, 2020
HEPACAM3Nov 24, 2020
HERC11Nov 24, 2020
HERC26Nov 24, 2020
HEXA4Nov 24, 2020
HFE2Nov 24, 2020
HFE-AS11Nov 24, 2020
HGSNAT3Nov 24, 2020
HINT11Nov 24, 2020
HIVEP25Nov 24, 2020
HMBS7Nov 24, 2020
HMGCL2Nov 24, 2020
HMMR1Nov 24, 2020
HNF1A1Nov 24, 2020
HNF4A2Nov 24, 2020
HNRNPK1Nov 24, 2020
HNRNPU3Nov 24, 2020
HNRNPUL2-BSCL21Nov 24, 2020
HOXD101Nov 24, 2020
HOXD133Nov 24, 2020
HPGD1Nov 24, 2020
HPRT11Nov 24, 2020
HPS11Nov 24, 2020
HPS31Nov 24, 2020
HS6ST11Nov 24, 2020
HSD17B41Nov 24, 2020
HSF41Nov 24, 2020
HSPA91Nov 24, 2020
HSPB11Nov 24, 2020
HSPB31Nov 24, 2020
HSPB81Nov 24, 2020
HSPD11Nov 24, 2020
HSPG25Nov 24, 2020
HUWE11Dec 8, 2017
HYDIN1Nov 24, 2020
HYLS13Nov 24, 2020
IDH21Nov 24, 2020
IDUA3Nov 24, 2020
IFIH15Nov 24, 2020
IFT1401Nov 24, 2020
IFT431Nov 24, 2020
IGF1R1Nov 24, 2020
IGF21Nov 24, 2020
IGHMBP24Nov 24, 2020
IHH1Nov 24, 2020
IKBKG1Nov 24, 2020
IL10RB1Nov 24, 2020
ILDR11Dec 8, 2017
ILK1Nov 24, 2020
IMPDH16Nov 24, 2020
IMPG24Nov 24, 2020
INF24Nov 24, 2020
INPP5E4Nov 24, 2020
INPPL11Nov 24, 2020
INS1Nov 24, 2020
INS-IGF22Nov 24, 2020
INSR1Nov 24, 2020
INTS11Nov 24, 2020
IQSEC25Nov 24, 2020
IRF61Nov 12, 2016
IRX41Dec 8, 2017
ITCH2Nov 24, 2020
ITGA21Nov 24, 2020
ITGB21Nov 24, 2020
ITGB34Nov 24, 2020
ITGB41Nov 24, 2020
ITPA1Nov 24, 2020
ITPR13Nov 24, 2020
IVD1Nov 24, 2020
JAG15Nov 24, 2020
JAM31Nov 24, 2020
JUP5Nov 24, 2020
KANK11Nov 24, 2020
KANSL12Nov 24, 2020
KAT6A1Nov 24, 2020
KAT6B9Nov 24, 2020
KBTBD132Nov 24, 2020
KCNA56Nov 24, 2020
KCNB11Dec 8, 2017
KCNC14Nov 24, 2020
KCNE11Nov 24, 2020
KCNE21Nov 24, 2020
KCNE32Nov 24, 2020
KCNH12Nov 24, 2020
KCNH27Nov 24, 2020
KCNJ111Nov 12, 2016
KCNJ22Nov 24, 2020
KCNJ51Nov 24, 2020
KCNK42Nov 24, 2020
KCNK4-TEX402Nov 24, 2020
KCNMA16Nov 24, 2020
KCNMA1-AS11Nov 24, 2020
KCNQ14Nov 24, 2020
KCNQ210Nov 24, 2020
KCNQ32Nov 24, 2020
KCNQ53Nov 24, 2020
KCNT15Nov 24, 2020
KDM1A1Nov 24, 2020
KDM6A1Nov 24, 2020
KIAA05862Nov 24, 2020
KIAA11092Nov 24, 2020
KIDINS2204Nov 24, 2020
KIF112Nov 24, 2020
KIF1A9Nov 24, 2020
KIF1B6Nov 24, 2020
KIF221Nov 24, 2020
KIF2A1Nov 24, 2020
KIF4A1Dec 8, 2017
KIF5A3Nov 24, 2020
KIF5C1Nov 24, 2020
KIF73Nov 24, 2020
KIRREL32Nov 24, 2020
KISS1R1Nov 24, 2020
KIT1Nov 24, 2020
KLF11Nov 24, 2020
KLF111Dec 8, 2017
KLHL241Nov 24, 2020
KLHL411Nov 24, 2020
KMT2A3Nov 24, 2020
KMT2B2Nov 24, 2020
KMT2C3Nov 24, 2020
KMT2D16Nov 24, 2020
KRAS1Nov 24, 2020
KRIT18Nov 24, 2020
KRT11Dec 8, 2017
KRT141Dec 8, 2017
KRT171Dec 8, 2017
KRT52Nov 24, 2020
KRT6A1Nov 24, 2020
KRT831Nov 24, 2020
KRT91Dec 8, 2017
L1CAM1Nov 24, 2020
L2HGDH1Nov 24, 2020
LAMA12Nov 24, 2020
LAMA26Nov 24, 2020
LAMA43Nov 24, 2020
LAMB12Nov 24, 2020
LAMC32Nov 24, 2020
LAMP21Nov 24, 2020
LARP71Nov 24, 2020
LARS21Nov 24, 2020
LARS2-AS11Nov 24, 2020
LBR3Nov 24, 2020
LCA51Nov 24, 2020
LDB33Nov 24, 2020
LDLR2Nov 24, 2020
LEMD31Nov 24, 2020
LEPR1Nov 24, 2020
LETM11Nov 24, 2020
LGI12Nov 24, 2020
LHCGR1Nov 24, 2020
LHX41Nov 24, 2020
LIAS2Nov 24, 2020
LIFR1Apr 8, 2020
LINC013891Nov 24, 2020
LIPA1Nov 24, 2020
LIPC1Nov 24, 2020
LIPT22Nov 24, 2020
LITAF1Nov 24, 2020
LMNA10Nov 24, 2020
LMNB11Nov 24, 2020
LOC1005073461Nov 24, 2020
LOC1014482023Nov 24, 2020
LOC1019270551Nov 24, 2020
LOC1019271571Nov 24, 2020
LOC1019278703Nov 24, 2020
LOC1019282221Nov 24, 2020
LOC1027235661Dec 8, 2017
LOC1027240587Nov 24, 2020
LOC1053710461Nov 24, 2020
LOC1053710492Nov 24, 2020
LOC1053715661Dec 8, 2017
LOC1060990621Nov 24, 2020
LOC1065017137Nov 24, 2020
LOC10662798114Nov 24, 2020
LOC1067998333Nov 24, 2020
LOC1068046121Dec 8, 2017
LOC1071335101Nov 24, 2020
LOC1079639501Nov 24, 2020
LOC1079862111Nov 24, 2020
LOC1082811341Nov 24, 2020
LOC1086639931Nov 24, 2020
LOC1095047252Nov 24, 2020
LOC1101212691Nov 24, 2020
LOC1101212881Nov 24, 2020
LOC1111881541Nov 12, 2016
LOC1125434522Nov 24, 2020
LOC1139399442Nov 24, 2020
LOC1148034701Nov 24, 2020
LOC1153081612Nov 24, 2020
LOC1171255941Nov 24, 2020
LONP13Nov 24, 2020
LOX1Nov 24, 2020
LPL1Nov 24, 2020
LRBA1Nov 24, 2020
LRP21Nov 12, 2016
LRP53Nov 24, 2020
LRPPRC1Nov 24, 2020
LRRC532Nov 24, 2020
LRRC61Nov 24, 2020
LRRK28Nov 24, 2020
LRSAM12Nov 24, 2020
LTBP22Nov 24, 2020
LURAP1L-AS11Nov 12, 2016
LXN1Nov 24, 2020
LYST2Nov 24, 2020
LZTR14Nov 24, 2020
MAB21L21Nov 24, 2020
MACF15Nov 24, 2020
MAF2Nov 24, 2020
MAGEL25Nov 24, 2020
MAGT11Nov 24, 2020
MAN1B11Nov 24, 2020
MAN2B11Nov 24, 2020
MAP1B2Nov 24, 2020
MAP2K11Nov 24, 2020
MAP2K22Nov 24, 2020
MAP3K11Nov 24, 2020
MAPK8IP33Nov 24, 2020
MAPT2Dec 8, 2017
MARS11Nov 24, 2020
MASP13Nov 24, 2020
MAST13Nov 24, 2020
MAST31Nov 24, 2020
MATN32Nov 24, 2020
MBD53Nov 24, 2020
MBTPS22Nov 24, 2020
MCCC11Nov 24, 2020
MCM41Nov 24, 2020
MCOLN12Nov 12, 2016
MCPH11Nov 24, 2020
MCUB1Nov 24, 2020
MECP213Nov 24, 2020
MED126Nov 24, 2020
MED131Nov 24, 2020
MED13L6Nov 24, 2020
MED171Nov 24, 2020
MEF2C1Nov 24, 2020
MEFV4Nov 24, 2020
MEGF101Nov 24, 2020
MEGF81Nov 24, 2020
MEIS11Nov 24, 2020
MEN15Nov 24, 2020
MFF-DT9Nov 24, 2020
MFN28Nov 24, 2020
MFSD84Nov 24, 2020
MHRT5Nov 24, 2020
MID11Dec 8, 2017
MIPEP1Nov 24, 2020
MIR302CHG1Nov 24, 2020
MIR4713HG1Nov 24, 2020
MITF6Nov 24, 2020
MKKS2Nov 24, 2020
MKS15Nov 24, 2020
MLC12Nov 24, 2020
MLH33Nov 24, 2020
MMAA2Nov 24, 2020
MME6Nov 24, 2020
MMP133Nov 24, 2020
MMUT2Nov 24, 2020
MOCS21Nov 24, 2020
MOG1Nov 24, 2020
MPDU11Nov 24, 2020
MPO1Nov 24, 2020
MPZ8Nov 24, 2020
MRE113Dec 8, 2017
MRNIP1Nov 24, 2020
MRPS221Nov 24, 2020
MSC-AS11Nov 24, 2020
MSH25Nov 24, 2020
MSH63Nov 24, 2020
MSX11Nov 24, 2020
MSX22Nov 24, 2020
MT-ATP66Nov 24, 2020
MT-ATP81Nov 24, 2020
MT-CO21Nov 12, 2016
MT-CO34Nov 24, 2020
MT-CYB1Nov 12, 2016
MT-ND12Nov 24, 2020
MT-ND42Dec 8, 2017
MT-ND62Dec 8, 2017
MT-RNR21Nov 24, 2020
MT-TE1Nov 24, 2020
MT-TL12Nov 24, 2020
MT-TP1Nov 12, 2016
MT-TS21Nov 24, 2020
MT-TT1Nov 12, 2016
MT-TV1Nov 24, 2020
MT-TY1Nov 24, 2020
MTFMT4Nov 24, 2020
MTHFR3Nov 24, 2020
MTM12Nov 24, 2020
MTMR142Nov 24, 2020
MTO13Nov 24, 2020
MTOR4Nov 24, 2020
MTR2Nov 24, 2020
MTRFR1Nov 24, 2020
MUSK4Nov 24, 2020
MUTYH2Nov 24, 2020
MVK1Nov 24, 2020
MYBPC11Dec 8, 2017
MYBPC315Nov 24, 2020
MYCBP21Nov 24, 2020
MYCN1Dec 8, 2017
MYF61Nov 24, 2020
MYH114Nov 24, 2020
MYH131Nov 24, 2020
MYH1410Nov 24, 2020
MYH35Nov 24, 2020
MYH65Nov 24, 2020
MYH724Nov 24, 2020
MYH83Nov 24, 2020
MYH94Nov 24, 2020
MYHAS3Nov 24, 2020
MYL21Dec 8, 2017
MYLK1Nov 24, 2020
MYLK21Nov 24, 2020
MYO15A4Nov 24, 2020
MYO62Nov 24, 2020
MYO7A12Nov 24, 2020
MYOC1Nov 24, 2020
MYOT3Nov 24, 2020
MYPN4Nov 24, 2020
MYT1L1Nov 24, 2020
MYZAP1Dec 8, 2017
NAA152Nov 24, 2020
NACC13Nov 24, 2020
NAGA1Nov 24, 2020
NAGLU2Dec 8, 2017
NAGS1Nov 24, 2020
NALCN3Nov 24, 2020
NBEA2Nov 24, 2020
NBN3Nov 24, 2020
NCAPH23Nov 24, 2020
NDE13Nov 24, 2020
NDN2Nov 24, 2020
NDP3Dec 8, 2017
NDP-AS13Dec 8, 2017
NDRG11Nov 24, 2020
NDUFAF51Nov 24, 2020
NDUFAF63Nov 24, 2020
NDUFS11Nov 24, 2020
NDUFV11Nov 24, 2020
NEB6Nov 24, 2020
NEDD4L1Nov 24, 2020
NEFL6Nov 24, 2020
NEK13Nov 24, 2020
NEMF1Nov 24, 2020
NEXMIF2Nov 24, 2020
NEXN2Nov 24, 2020
NF160Nov 24, 2020
NF23Nov 24, 2020
NFIA1Nov 24, 2020
NFIB1Nov 24, 2020
NFIX3Nov 24, 2020
NHS1Nov 24, 2020
NIN3Nov 24, 2020
NIPA13Nov 24, 2020
NIPBL12Nov 24, 2020
NKX2-11Nov 24, 2020
NKX2-51Dec 8, 2017
NLGN31Nov 24, 2020
NLRP12Nov 24, 2020
NLRP32Nov 24, 2020
NLRP82Nov 24, 2020
NMNAT11Nov 24, 2020
NNT3Nov 24, 2020
NOD21Nov 24, 2020
NOP561Dec 8, 2017
NOS31Nov 24, 2020
NOTCH16Nov 24, 2020
NOTCH21Nov 24, 2020
NOTCH315Nov 24, 2020
NPC19Nov 24, 2020
NPC21Nov 24, 2020
NPHP11Nov 24, 2020
NPHP33Nov 24, 2020
NPHP3-ACAD113Nov 24, 2020
NPHP41Nov 24, 2020
NPHS15Nov 24, 2020
NPR24Nov 24, 2020
NPRL21Nov 24, 2020
NPRL31Nov 24, 2020
NR2E34Nov 24, 2020
NR2F14Nov 24, 2020
NR4A21Nov 24, 2020
NR5A11Nov 24, 2020
NRL1Dec 8, 2017
NRXN14Nov 24, 2020
NRXN21Nov 24, 2020
NSD110Nov 24, 2020
NSDHL3Nov 24, 2020
NSMF1Nov 24, 2020
NSUN63Nov 24, 2020
NT5DC11Nov 24, 2020
NTHL11Nov 24, 2020
NTNG11Nov 24, 2020
NTRK11Nov 24, 2020
NUBPL1Nov 24, 2020
NYX1Nov 24, 2020
OAT2Nov 24, 2020
OBSL12Nov 24, 2020
OCA22Nov 24, 2020
OFD12Nov 24, 2020
OGT1Nov 24, 2020
OPA19Nov 24, 2020
OPA1-AS11Dec 8, 2017
OPA31Nov 24, 2020
OPHN11Nov 12, 2016
OPN1MW21Nov 24, 2020
OPTN2Nov 24, 2020
OTC6Nov 24, 2020
OTOF2Nov 12, 2016
OTX21Dec 8, 2017
P2RX21Nov 24, 2020
P4HB1Nov 24, 2020
PACS11Nov 24, 2020
PACS22Nov 24, 2020
PAFAH1B13Nov 24, 2020
PAH6Nov 24, 2020
PALB29Nov 24, 2020
PANK25Nov 24, 2020
PAPSS21Nov 24, 2020
PAX22Nov 24, 2020
PAX61Nov 24, 2020
PC2Nov 24, 2020
PCARE2Nov 24, 2020
PCCB4Nov 24, 2020
PCDH158Nov 24, 2020
PCDH194Nov 24, 2020
PCGF31Nov 24, 2020
PCK11Nov 24, 2020
PCNT1Nov 24, 2020
PDCD102Nov 24, 2020
PDE11A2Nov 24, 2020
PDE4D1Nov 24, 2020
PDE6A2Nov 24, 2020
PDE6B8Nov 24, 2020
PDE6H1Nov 24, 2020
PDE8B3Nov 24, 2020
PDGFB1Nov 24, 2020
PDGFRA1Nov 24, 2020
PDGFRB6Nov 24, 2020
PDHA17Nov 24, 2020
PDHX2Nov 24, 2020
PDK31Nov 24, 2020
PDZD71Nov 24, 2020
PEX11Nov 24, 2020
PEX101Nov 24, 2020
PEX121Nov 24, 2020
PEX21Nov 24, 2020
PEX261Nov 24, 2020
PEX51Nov 24, 2020
PEX64Nov 24, 2020
PEX72Nov 24, 2020
PFN11Nov 12, 2016
PGAP21Nov 24, 2020
PGBD31Nov 24, 2020
PGM11Nov 24, 2020
PHEX2Nov 24, 2020
PHF33Nov 24, 2020
PHF62Nov 24, 2020
PHF82Nov 24, 2020
PHGDH4Nov 24, 2020
PHIP1Nov 24, 2020
PHKA12Nov 24, 2020
PHKA1-AS11Nov 24, 2020
PHKA22Nov 24, 2020
PHKB1Nov 24, 2020
PHOX2B1Nov 24, 2020
PI4KA1Nov 24, 2020
PIEZO11Nov 24, 2020
PIEZO26Nov 24, 2020
PIGL6Nov 24, 2020
PIGO1Nov 24, 2020
PIGQ1Nov 24, 2020
PIK3CA4Nov 24, 2020
PIK3CD1Nov 24, 2020
PIK3R12Nov 24, 2020
PIK3R24Nov 24, 2020
PINK11Nov 24, 2020
PIRC661Nov 24, 2020
PITPNM31Nov 24, 2020
PITX11Nov 24, 2020
PKD145Nov 24, 2020
PKD1L12Nov 24, 2020
PKD215Nov 24, 2020
PKHD113Nov 24, 2020
PKN32Nov 24, 2020
PKP28Nov 24, 2020
PLCB41Nov 24, 2020
PLCG21Nov 24, 2020
PLEC6Nov 24, 2020
PLG1Nov 24, 2020
PLN1Nov 24, 2020
PLOD17Nov 24, 2020
PLOD23Nov 24, 2020
PLP13Nov 24, 2020
PMM24Nov 24, 2020
PMP224Nov 24, 2020
PMS12Nov 24, 2020
PMS25Nov 24, 2020
PNKD4Nov 24, 2020
PNKP1Nov 24, 2020
PNP1Nov 24, 2020
PNPLA21Nov 24, 2020
PNPLA65Nov 24, 2020
PNPO2Nov 24, 2020
POF1B2Nov 24, 2020
POGZ4Nov 24, 2020
POLD14Nov 24, 2020
POLG5Nov 24, 2020
POLK1Nov 24, 2020
POLR1C1Nov 24, 2020
POLR2F1Nov 24, 2020
POLR3A2Nov 24, 2020
POLR3B2Nov 24, 2020
POLR3H1Nov 24, 2020
POMGNT13Nov 24, 2020
POMT16Nov 24, 2020
POU4F32Nov 24, 2020
PPARG1Nov 24, 2020
PPARGC1A1Nov 24, 2020
PPM1D3Nov 24, 2020
PPM1E1Nov 24, 2020
PPOX2Dec 8, 2017
PPP1R3A1Nov 24, 2020
PPP2R1A1Nov 24, 2020
PPP3CA1Nov 24, 2020
PQBP14Nov 24, 2020
PRDM163Nov 24, 2020
PRDM52Nov 24, 2020
PRF11Nov 24, 2020
PRICKLE11Nov 12, 2016
PRKAG27Nov 24, 2020
PRKCE1Nov 24, 2020
PRKCG1Nov 24, 2020
PRKD11Nov 24, 2020
PRKN2Nov 24, 2020
PRKRA1Nov 24, 2020
PRMT73Nov 24, 2020
PRODH2Nov 24, 2020
PROK21Nov 24, 2020
PROKR21Nov 24, 2020
PROM13Nov 24, 2020
PROP11Nov 24, 2020
PRPF32Nov 24, 2020
PRPF311Nov 24, 2020
PRPF64Nov 24, 2020
PRPF86Nov 24, 2020
PRPH25Nov 24, 2020
PRPS11Nov 24, 2020
PRRT26Nov 24, 2020
PRSS11Dec 8, 2017
PRSS232Nov 24, 2020
PRSS561Nov 24, 2020
PRX4Nov 24, 2020
PSEN13Nov 24, 2020
PSMD61Nov 24, 2020
PSTPIP11Nov 24, 2020
PTCH18Nov 24, 2020
PTCH21Nov 24, 2020
PTCHD1-AS1Nov 12, 2016
PTDSS11Nov 24, 2020
PTEN8Nov 24, 2020
PTPN1114Nov 24, 2020
PTPN233Nov 24, 2020
PTPRQ1Dec 8, 2017
PUF601Nov 24, 2020
PURA1Nov 24, 2020
PUS33Nov 24, 2020
PYGL1Nov 24, 2020
QARS11Nov 24, 2020
RAB33A4Nov 24, 2020
RAB39B2Nov 24, 2020
RAB9B3Nov 24, 2020
RAD51C3Nov 24, 2020
RAD51D1Nov 24, 2020
RAD51L3-RFFL1Nov 24, 2020
RAF12Nov 24, 2020
RAI15Nov 24, 2020
RANBP21Nov 24, 2020
RAPSN4Nov 24, 2020
RARS11Nov 24, 2020
RARS21Nov 24, 2020
RASA11Nov 24, 2020
RASA21Nov 24, 2020
RAX21Nov 24, 2020
RB15Nov 24, 2020
RBBP82Nov 24, 2020
RBCK11Nov 24, 2020
RBM202Nov 24, 2020
RBP31Nov 24, 2020
RBP42Nov 24, 2020
RDH123Nov 24, 2020
RDH52Nov 24, 2020
RECQL43Nov 24, 2020
RELN11Nov 24, 2020
REN1Nov 24, 2020
RERE5Nov 24, 2020
RET6Nov 24, 2020
RFT11Nov 24, 2020
RGR3Nov 24, 2020
RHO7Nov 24, 2020
RIF13Nov 24, 2020
RIMS14Nov 24, 2020
RIT11Dec 8, 2017
RNASEH2B2Nov 24, 2020
RNASET22Nov 24, 2020
RNF1351Nov 24, 2020
RNF1701Nov 24, 2020
RNF2134Nov 24, 2020
RNF213-AS12Nov 24, 2020
ROBO21Nov 24, 2020
ROGDI3Nov 24, 2020
ROM12Nov 24, 2020
RORC1Nov 24, 2020
RP13Nov 24, 2020
RP1L16Nov 24, 2020
RP21Nov 24, 2020
RPE654Nov 24, 2020
RPGR5Nov 24, 2020
RPGRIP12Nov 24, 2020
RPGRIP1L5Nov 24, 2020
RPL101Nov 24, 2020
RPL36A-HNRNPH23Nov 24, 2020
RPL51Dec 8, 2017
RPS261Nov 24, 2020
RPS291Nov 24, 2020
RPS6KA35Nov 24, 2020
RRP82Nov 24, 2020
RS14Nov 24, 2020
RTTN2Nov 24, 2020
RUNX11Nov 24, 2020
RUSC21Nov 24, 2020
RXYLT11Nov 24, 2020
RYR149Nov 24, 2020
RYR210Nov 24, 2020
RYR34Nov 24, 2020
SACS2Nov 24, 2020
SAG1Nov 24, 2020
SALL11Nov 24, 2020
SALL41Nov 24, 2020
SAMD9L1Nov 24, 2020
SATB26Nov 24, 2020
SBDS2Dec 8, 2017
SBF11Nov 24, 2020
SBF21Nov 24, 2020
SBF2-AS11Nov 24, 2020
SCN10A3Nov 24, 2020
SCN1A23Nov 24, 2020
SCN1A-AS19Nov 24, 2020
SCN2A4Nov 24, 2020
SCN3A2Nov 24, 2020
SCN4A11Nov 24, 2020
SCN5A11Nov 24, 2020
SCN8A6Nov 24, 2020
SCN9A11Nov 24, 2020
SCO24Nov 24, 2020
SCP21Dec 8, 2017
SDCCAG81Nov 24, 2020
SDHA3Nov 24, 2020
SDHB4Nov 24, 2020
SEC23A1Nov 24, 2020
SEC23B4Nov 24, 2020
SEC631Nov 24, 2020
SELENON4Nov 24, 2020
SEMA3E1Nov 24, 2020
SEMA4D1Nov 24, 2020
SENP3-EIF4A11Nov 24, 2020
SEPSECS2Nov 24, 2020
SEPTIN91Nov 24, 2020
SERPIND11Nov 24, 2020
SET1Nov 24, 2020
SETBP16Nov 24, 2020
SETD1A3Nov 24, 2020
SETD24Nov 24, 2020
SETD51Nov 24, 2020
SETX4Nov 24, 2020
SF3B41Nov 16, 2017
SFTA31Nov 24, 2020
SGCA3Nov 24, 2020
SGCB9Nov 24, 2020
SGCE1Nov 24, 2020
SGSH2Nov 24, 2020
SH3BP41Nov 24, 2020
SH3TC21Nov 12, 2016
SHANK11Nov 24, 2020
SHANK33Nov 24, 2020
SHH2Nov 24, 2020
SHLD21Nov 24, 2020
SHOC21Nov 24, 2020
SHROOM42Nov 24, 2020
SIK11Nov 24, 2020
SIM11Nov 24, 2020
SIN3A1Nov 24, 2020
SIPA1L32Nov 24, 2020
SIX31Nov 24, 2020
SKI2Nov 24, 2020
SLC12A11Nov 24, 2020
SLC12A32Dec 8, 2017
SLC12A51Nov 24, 2020
SLC12A61Dec 8, 2017
SLC16A121Nov 24, 2020
SLC16A21Nov 12, 2016
SLC17A51Nov 24, 2020
SLC19A15Nov 24, 2020
SLC19A31Nov 24, 2020
SLC1A11Nov 24, 2020
SLC1A22Nov 24, 2020
SLC20A22Nov 24, 2020
SLC25A11Nov 24, 2020
SLC25A121Nov 24, 2020
SLC25A242Dec 23, 2016
SLC25A31Nov 24, 2020
SLC25A45Nov 24, 2020
SLC26A13Nov 24, 2020
SLC26A31Nov 24, 2020
SLC26A44Nov 24, 2020
SLC2A15Nov 24, 2020
SLC33A11Nov 24, 2020
SLC34A12Nov 24, 2020
SLC34A31Nov 24, 2020
SLC35A31Nov 24, 2020
SLC37A42Nov 24, 2020
SLC39A131Nov 12, 2016
SLC4A11Nov 24, 2020
SLC52A31Nov 24, 2020
SLC6A191Nov 24, 2020
SLC6A31Nov 24, 2020
SLC6A82Nov 24, 2020
SLC7A91Nov 24, 2020
SLC9A62Nov 24, 2020
SLCO2A11Nov 24, 2020
SLX41Nov 24, 2020
SMAD34Nov 24, 2020
SMAD41Nov 24, 2020
SMARCA22Nov 24, 2020
SMARCA46Nov 24, 2020
SMARCAL15Nov 24, 2020
SMARCB12Nov 24, 2020
SMARCC23Nov 24, 2020
SMARCE11Nov 24, 2020
SMC1A6Nov 24, 2020
SMC31Nov 24, 2020
SMCHD12Nov 24, 2020
SMS1Nov 24, 2020
SNHG142Nov 12, 2016
SNHG311Nov 24, 2020
SNRNP2006Nov 24, 2020
SNTA11Nov 24, 2020
SNX141Nov 24, 2020
SOD12Nov 24, 2020
SOGA11Nov 24, 2020
SON1Nov 24, 2020
SOS110Nov 24, 2020
SOS21Nov 24, 2020
SOX101Nov 24, 2020
SOX21Nov 24, 2020
SOX2-OT1Nov 24, 2020
SOX31Nov 24, 2020
SOX41Nov 24, 2020
SOX53Nov 24, 2020
SOX91Nov 24, 2020
SP31Nov 24, 2020
SPAST13Nov 24, 2020
SPATA6L1Nov 24, 2020
SPATA71Nov 24, 2020
SPECC1L1Nov 24, 2020
SPECC1L-ADORA2A1Nov 24, 2020
SPEG3Nov 24, 2020
SPG1111Nov 24, 2020
SPG211Nov 24, 2020
SPG78Nov 24, 2020
SPINK12Nov 24, 2020
SPINK54Nov 24, 2020
SPR3Nov 24, 2020
SPRED11Nov 24, 2020
SPTA14Nov 24, 2020
SPTAN17Nov 24, 2020
SPTB1Dec 8, 2017
SPTBN27Nov 24, 2020
SPTLC21Nov 24, 2020
SQSTM11Nov 24, 2020
SRCAP1Nov 24, 2020
SRFBP11Nov 24, 2020
SRGAP11Nov 24, 2020
SRGAP31Nov 24, 2020
SSUH21Nov 24, 2020
STAG32Nov 12, 2016
STAT11Nov 24, 2020
STAT32Nov 24, 2020
STIM12Nov 24, 2020
STING11Nov 24, 2020
STK117Nov 24, 2020
STON1-GTF2A1L1Nov 24, 2020
STRA62Nov 24, 2020
STRIP11Nov 24, 2020
STS1Nov 24, 2020
STX1B1Nov 24, 2020
STXBP13Dec 8, 2017
SUFU1Nov 24, 2020
SUMF11Nov 24, 2020
SUOX1Nov 24, 2020
SURF13Nov 24, 2020
SYN13Nov 24, 2020
SYN31Nov 24, 2020
SYNE110Nov 24, 2020
SYNE27Nov 24, 2020
SYNGAP110Nov 24, 2020
SYNJ13Nov 24, 2020
SYT22Nov 24, 2020
SZT23Nov 24, 2020
TAB21Dec 8, 2017
TACO11Nov 24, 2020
TACR31Nov 24, 2020
TAF13Nov 24, 2020
TAF101Nov 24, 2020
TAF61Nov 24, 2020
TALDO11Dec 8, 2017
TBC1D231Nov 24, 2020
TBC1D244Nov 24, 2020
TBCE1Nov 24, 2020
TBCEL-TECTA6Nov 24, 2020
TBCK1Nov 24, 2020
TBK12Nov 24, 2020
TBR11Nov 24, 2020
TBX201Nov 24, 2020
TBX221Dec 8, 2017
TBX31Nov 24, 2020
TBX62Nov 24, 2020
TCAP2Nov 24, 2020
TCF121Nov 24, 2020
TCF201Nov 24, 2020
TCF410Nov 24, 2020
TCIRG12Nov 24, 2020
TCOF12Nov 24, 2020
TCTN21Nov 24, 2020
TCTN31Nov 24, 2020
TECTA6Nov 24, 2020
TEK2Nov 24, 2020
TENM42Nov 24, 2020
TFAP2A2Nov 24, 2020
TFAP2B2Nov 24, 2020
TGFB21Nov 24, 2020
TGFB32Nov 24, 2020
TGFBR23Nov 24, 2020
TGM62Nov 24, 2020
TH5Nov 24, 2020
THAP12Nov 24, 2020
THOC21Nov 24, 2020
THPO1Nov 24, 2020
TIGD11Nov 24, 2020
TIMP31Nov 24, 2020
TINF21Nov 24, 2020
TMC12Nov 24, 2020
TMEM126B1Nov 24, 2020
TMEM38B1Nov 24, 2020
TMEM6713Nov 24, 2020
TMEM702Nov 24, 2020
TMPRSS31Nov 24, 2020
TMX2-CTNND11Nov 24, 2020
TNC3Nov 24, 2020
TNFRSF13B1Nov 24, 2020
TNFRSF13C1Nov 24, 2020
TNFRSF1A1Dec 8, 2017
TNNI21Nov 12, 2016
TNNI31Nov 12, 2016
TNNI3K3Nov 24, 2020
TNNT24Nov 24, 2020
TNXB2Dec 8, 2017
TOE11Nov 24, 2020
TOPORS5Nov 24, 2020
TP532Nov 24, 2020
TP631Nov 24, 2020
TPK11Nov 24, 2020
TPM15Nov 24, 2020
TPM22Nov 24, 2020
TPM31Nov 24, 2020
TPO5Nov 24, 2020
TPP12Nov 24, 2020
TPP21Nov 24, 2020
TRAPPC21Nov 24, 2020
TRB1Dec 8, 2017
TREX12Nov 24, 2020
TRHR1Dec 8, 2017
TRIM323Nov 24, 2020
TRIM371Nov 24, 2020
TRIO2Nov 24, 2020
TRIOBP1Nov 24, 2020
TRIP124Nov 24, 2020
TRNT11Nov 24, 2020
TRPA11Nov 24, 2020
TRPM11Nov 24, 2020
TRPM43Nov 24, 2020
TRPS13Nov 24, 2020
TRPV31Nov 24, 2020
TRPV49Nov 24, 2020
TSC110Nov 24, 2020
TSC222Nov 24, 2020
TSEN546Nov 24, 2020
TSHR2Nov 24, 2020
TSHZ11Nov 24, 2020
TSPAN13Nov 24, 2020
TSPAN122Nov 24, 2020
TTC371Nov 24, 2020
TTC7A1Nov 24, 2020
TTC83Nov 24, 2020
TTLL51Nov 24, 2020
TTN55Nov 24, 2020
TTN-AS128Nov 24, 2020
TTPA1Nov 24, 2020
TTR2Nov 24, 2020
TUBA1A1Nov 24, 2020
TUBB2A1Nov 24, 2020
TUBB32Nov 24, 2020
TUBB4A3Nov 24, 2020
TUBB4B1Nov 24, 2020
TUBGCP51Apr 10, 2018
TULP14Nov 24, 2020
TUSC31Nov 24, 2020
TWIST13Nov 24, 2020
TWNK3Nov 24, 2020
TYMP1Nov 24, 2020
TYR16Nov 24, 2020
TYROBP1Nov 12, 2016
TYRP12Nov 12, 2016
UBA12Nov 24, 2020
UBE3A2Nov 12, 2016
UBE3B1Nov 24, 2020
UBTF1Nov 24, 2020
UFM11Nov 24, 2020
UMOD1Nov 24, 2020
UPF3B1Dec 8, 2017
USH1C1Nov 24, 2020
USH2A31Nov 24, 2020
USH2A-AS12Nov 24, 2020
USP27X1Nov 24, 2020
USP9X2Nov 24, 2020
UVSSA1Nov 24, 2020
VCAN2Nov 24, 2020
VCAN-AS11Nov 24, 2020
VCP2Nov 24, 2020
VHL3Nov 24, 2020
VIM1Nov 24, 2020
VPS13A2Nov 24, 2020
VPS13B5Nov 24, 2020
VSIR1Nov 24, 2020
VWF3Nov 24, 2020
WARS11Nov 24, 2020
WASHC53Nov 24, 2020
WDR111Nov 24, 2020
WDR192Nov 24, 2020
WDR262Nov 24, 2020
WDR453Nov 24, 2020
WDR621Nov 24, 2020
WDR811Nov 24, 2020
WFS16Nov 24, 2020
WNK11Nov 24, 2020
WNT10A2Nov 24, 2020
WNT5A1Nov 24, 2020
WRN3Nov 24, 2020
WWOX7Nov 24, 2020
XAB21Nov 24, 2020
XIAP1Dec 8, 2017
XIRP21Nov 24, 2020
YAP11Nov 24, 2020
YARS11Nov 24, 2020
YWHAZ1Nov 24, 2020
YY11Nov 24, 2020
ZC4H24Nov 24, 2020
ZDHHC241Nov 24, 2020
ZDHHC93Nov 24, 2020
ZEB11Nov 12, 2016
ZEB22Nov 24, 2020
ZFPM22Nov 24, 2020
ZFPM2-AS12Nov 24, 2020
ZFYVE264Nov 24, 2020
ZFYVE273Nov 24, 2020
ZGRF12Nov 24, 2020
ZIC23Nov 24, 2020
ZMYND113Nov 24, 2020
ZNF4081Nov 24, 2020
ZNF4696Nov 24, 2020
ZNF5131Nov 24, 2020
ZNF5361Nov 24, 2020
ZNF5921Nov 24, 2020
ZNF6442Nov 24, 2020
ZNF7111Nov 24, 2020
ZSWIM61Nov 24, 2020

Condition

NameSubmissionsLast Updated
1q21.1 recurrent microdeletion1Nov 24, 2020
2-3 toe syndactyly2Nov 12, 2016
2-aminoadipic 2-oxoadipic aciduria1Nov 24, 2020
22q13.3 deletion syndrome2Nov 24, 2020
3 Methylcrotonyl-CoA carboxylase 1 deficiency1Nov 24, 2020
3-4 toe syndactyly1Nov 12, 2016
3-Methylglutaconic aciduria type 31Nov 24, 2020
3MC syndrome 13Nov 24, 2020
4-5 finger syndactyly2Dec 8, 2017
46,XX sex reversal 41Nov 24, 2020
46,XY sex reversal, type 61Nov 24, 2020
4p partial monosomy syndrome2Nov 24, 2020
ALG1-CDG1Nov 24, 2020
ALG3-CDG1Nov 24, 2020
ALG8-CDG1Nov 24, 2020
AU-KLINE SYNDROME1Nov 24, 2020
Aarskog syndrome2Nov 24, 2020
Abdominal colic1Nov 12, 2016
Abdominal pain2Nov 12, 2016
Abnormal bleeding3Dec 8, 2017
Abnormal blistering of the skin8Dec 8, 2017
Abnormal brainstem MRI signal intensity1Dec 8, 2017
Abnormal concentration of calcium in blood1Dec 8, 2017
Abnormal cortical gyration2Dec 8, 2017
Abnormal electroretinogram7Dec 8, 2017
Abnormal emotion/affect behavior1Dec 8, 2017
Abnormal eyebrow morphology1Nov 12, 2016
Abnormal facial shape34Dec 8, 2017
Abnormal hemoglobin1Nov 12, 2016
Abnormal liver function tests during pregnancy1Nov 12, 2016
Abnormal macular morphology4Dec 8, 2017
Abnormal mitochondria in muscle tissue2Dec 8, 2017
Abnormal morphology of the left ventricle1Nov 12, 2016
Abnormal muscle fiber dystrophin expression1Dec 8, 2017
Abnormal myelination1Dec 8, 2017
Abnormal pattern of respiration2Dec 8, 2017
Abnormal platelet function2Dec 8, 2017
Abnormal platelet morphology2Dec 8, 2017
Abnormal platelet shape2Dec 8, 2017
Abnormal pyramidal signs2Dec 8, 2017
Abnormal retinal morphology4Dec 8, 2017
Abnormal upper motor neuron morphology1Dec 8, 2017
Abnormal urinary color1Dec 8, 2017
Abnormal vena cava morphology1Dec 8, 2017
Abnormality of acid-base homeostasis1Dec 8, 2017
Abnormality of brain morphology2Dec 8, 2017
Abnormality of carbohydrate metabolism/homeostasis1Dec 8, 2017
Abnormality of cardiovascular system morphology4Dec 8, 2017
Abnormality of color vision4Dec 8, 2017
Abnormality of connective tissue1Nov 12, 2016
Abnormality of dental enamel3Nov 12, 2016
Abnormality of digit2Dec 8, 2017
Abnormality of earlobe1Nov 12, 2016
Abnormality of macular pigmentation1Nov 12, 2016
Abnormality of metabolism/homeostasis6Dec 8, 2017
Abnormality of mitochondrial metabolism1Dec 8, 2017
Abnormality of neuronal migration1Dec 8, 2017
Abnormality of ornithine metabolism1Dec 8, 2017
Abnormality of retinal pigmentation5Dec 8, 2017
Abnormality of salivation1Dec 8, 2017
Abnormality of the anus1Dec 8, 2017
Abnormality of the aortic valve1Dec 8, 2017
Abnormality of the basal ganglia1Dec 8, 2017
Abnormality of the cerebral white matter3Apr 8, 2020
Abnormality of the choroid1Nov 12, 2016
Abnormality of the corpus callosum4Nov 12, 2016
Abnormality of the dentition8Dec 8, 2017
Abnormality of the eye3Dec 8, 2017
Abnormality of the face1Dec 8, 2017
Abnormality of the foot2Dec 8, 2017
Abnormality of the heart valves1Dec 8, 2017
Abnormality of the intrahepatic bile duct2Dec 8, 2017
Abnormality of the kidney3Nov 12, 2016
Abnormality of the lower limb2Dec 8, 2017
Abnormality of the mitral valve1Dec 8, 2017
Abnormality of the musculature1Nov 12, 2016
Abnormality of the nail4Dec 8, 2017
Abnormality of the optic nerve4Dec 8, 2017
Abnormality of the ovary1Nov 12, 2016
Abnormality of the pinna6Dec 8, 2017
Abnormality of the posterior cranial fossa1Dec 8, 2017
Abnormality of the pulmonary veins2Dec 8, 2017
Abnormality of the rectum1Dec 8, 2017
Abnormality of the skeletal system1Nov 12, 2016
Abnormality of the skin4Dec 8, 2017
Abnormality of the soft palate1Dec 8, 2017
Abnormality of the sternum2Dec 8, 2017
Abnormality of the talus1Dec 8, 2017
Abnormality of the thyroid gland1Nov 12, 2016
Abnormality of the trabecular meshwork1Dec 8, 2017
Abnormality of the zygomatic bone1Dec 8, 2017
Abnormality of vision4Dec 8, 2017
Abnormality of visual evoked potentials1Dec 8, 2017
Abnormally lax or hyperextensible skin1Dec 8, 2017
Abortive cerebellar ataxia7Nov 24, 2020
Absence seizures4Dec 8, 2017
Absent Achilles reflex2Dec 8, 2017
Absent axillary hair1Dec 8, 2017
Absent gallbladder1Dec 8, 2017
Absent muscle fiber calpain-32Dec 8, 2017
Absent muscle fiber dysferlin1Dec 8, 2017
Absent pubic hair1Dec 8, 2017
Absent speech17Apr 8, 2020
Absent vertebral body mineralization1Nov 12, 2016
Acanthocytosis1Nov 12, 2016
Acanthosis nigricans2Dec 8, 2017
Achilles tendon contracture4Dec 8, 2017
Achondrogenesis type II9Nov 24, 2020
Achromatopsia 23Nov 24, 2020
Achromatopsia 34Nov 24, 2020
Acquired porencephaly2Dec 8, 2017
Acrodysostosis 2, with or without hormone resistance1Nov 24, 2020
Acrokeratosis verruciformis of Hopf2Nov 24, 2020
Acromelic frontonasal dysostosis1Nov 24, 2020
Acromesomelic dysplasia, Maroteaux type2Nov 24, 2020
Action tremor1Nov 12, 2016
Acute episodes of neuropathic symptoms1Nov 12, 2016
Acute febrile neutrophilic dermatosis3Nov 24, 2020
Acute hepatic failure1Dec 8, 2017
Acute intermittent porphyria5Nov 24, 2020
Acute myeloid leukemia1Nov 24, 2020
Adams-Oliver syndrome 11Nov 24, 2020
Adenoma sebaceum1Nov 12, 2016
Adenomatous colonic polyposis2Dec 8, 2017
Adenylosuccinate lyase deficiency1Nov 24, 2020
Adrenal pheochromocytoma1Dec 8, 2017
Adrenocortical carcinoma1Dec 8, 2017
Adrenoleukodystrophy5Nov 24, 2020
Adult hypophosphatasia6Nov 24, 2020
Adult-onset night blindness4Dec 8, 2017
Aganglionic megacolon1Dec 8, 2017
Age-related macular degeneration 240Nov 24, 2020
Age-related macular degeneration 61Nov 24, 2020
Agenesis of permanent teeth2Dec 8, 2017
Aggressive behavior2Dec 8, 2017
Aicardi Goutieres syndrome 22Nov 24, 2020
Aicardi-Goutieres syndrome 63Nov 24, 2020
Akinesia1Nov 12, 2016
Alagille syndrome 21Nov 24, 2020
Alazami syndrome1Nov 24, 2020
Alazami-Yuan syndrome1Nov 24, 2020
Albinism9Dec 8, 2017
Alexander Disease3Nov 24, 2020
Alkuraya-Kucinskas syndrome2Nov 24, 2020
Allergy2Dec 8, 2017
Alopecia1Dec 8, 2017
Alopecia areata2Dec 8, 2017
Alopecia of scalp3Nov 12, 2016
Alpha thalassemia-X-linked intellectual disability syndrome3Nov 24, 2020
Alpha-N-acetylgalactosaminidase deficiency type 21Nov 24, 2020
Alport syndrome 1, X-linked recessive8Nov 24, 2020
Alport syndrome 3, autosomal dominant6Nov 24, 2020
Alstrom syndrome1Nov 24, 2020
Alzheimer disease1Nov 24, 2020
Alzheimer disease, type 42Nov 24, 2020
Alzheimer disease, type 92Nov 24, 2020
Ambiguous genitalia1Dec 8, 2017
Amblyopia9Dec 8, 2017
Amelogenesis imperfecta1Nov 12, 2016
Amelogenesis imperfecta, type IV1Nov 24, 2020
Amenorrhea2Dec 8, 2017
Amyloidogenic transthyretin amyloidosis2Nov 24, 2020
Amyloidosis1Nov 12, 2016
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1Nov 24, 2020
Amyotrophic lateral sclerosis type 11Nov 24, 2020
Amyotrophic lateral sclerosis type 22Nov 24, 2020
Andersen Tawil syndrome2Nov 24, 2020
Androgen resistance syndrome1Nov 12, 2016
Anemia4Dec 8, 2017
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Nov 24, 2020
Aneurysm of descending aorta1Nov 12, 2016
Angioedema1Nov 12, 2016
Angiofibromas1Dec 8, 2017
Anonychia3Dec 8, 2017
Anophthalmia/microphthalmia-esophageal atresia syndrome1Nov 24, 2020
Anterior creases of earlobe2Apr 8, 2020
Anteverted nares6Dec 8, 2017
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis4Nov 24, 2020
Anxiety2Dec 8, 2017
Aortic aneurysm1Nov 12, 2016
Aortic aneurysm, familial thoracic 101Nov 24, 2020
Aortic aneurysm, familial thoracic 42Nov 24, 2020
Aortic aneurysm, familial thoracic 71Nov 24, 2020
Aortic dilatation2Nov 12, 2016
Aortic dissection3Dec 8, 2017
Aortic regurgitation1Nov 12, 2016
Aortic root dilatation5Apr 8, 2020
Aortic tortuosity1Dec 8, 2017
Aortic valve disorder5Nov 24, 2020
Aplasia of the ovary1Dec 8, 2017
Aplasia of the uterus1Dec 8, 2017
Aplasia/Hypoplasia involving the metacarpal bones1Nov 12, 2016
Aplasia/Hypoplasia of the cerebellum1Nov 12, 2016
Aplasia/Hypoplasia of the corpus callosum2Dec 8, 2017
Aplasia/Hypoplasia of the nails1Nov 12, 2016
Aplasia/Hypoplasia of the phalanges of the hand1Nov 12, 2016
Aplasia/hypoplasia of the femur2Nov 12, 2016
Aplastic anemia1Dec 8, 2017
Apnea1Dec 8, 2017
Arachnodactyly4Dec 8, 2017
Areflexia of lower limbs2Nov 12, 2016
Arhinia, choanal atresia, and microphthalmia2Nov 24, 2020
Aromatase deficiency1Nov 24, 2020
Arrhythmia10Dec 8, 2017
Arrhythmogenic right ventricular cardiomyopathy1Nov 12, 2016
Arrhythmogenic right ventricular cardiomyopathy, type 107Nov 24, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 114Nov 24, 2020
Arrhythmogenic right ventricular dysplasia 97Nov 24, 2020
Arterial thrombosis1Dec 8, 2017
Arterial tortuosity2Dec 8, 2017
Arteriovenous malformation3Dec 8, 2017
Arthralgia4Apr 8, 2020
Arthrogryposis multiplex congenita3Nov 12, 2016
Arthrogryposis, distal, type 2b35Nov 24, 2020
Arthrogryposis, distal, with impaired proprioception and touch5Nov 24, 2020
Arthrogryposis, mental retardation, and seizures1Nov 24, 2020
Ascending aortic dissection1Nov 12, 2016
Aspartylglucosaminuria2Nov 24, 2020
Aspiration pneumonia2Dec 8, 2017
Astigmatism5Dec 8, 2017
Astrocytoma1Dec 8, 2017
Asymmetric septal hypertrophy1Dec 8, 2017
Ataxia1Nov 12, 2016
Ataxia, sensory, autosomal dominant1Nov 24, 2020
Ataxia-oculomotor apraxia 41Nov 24, 2020
Ataxia-pancytopenia syndrome1Nov 24, 2020
Atelosteogenesis type III6Nov 24, 2020
Atrial fibrillation, familial, 74Nov 24, 2020
Atrial septal defect9Dec 8, 2017
Atrial septal defect 21Nov 24, 2020
Atrial septal defect 41Nov 24, 2020
Atrial septal dilatation1Dec 8, 2017
Atrioventricular septal defect2Nov 12, 2016
Atrioventricular septal defect 21Nov 24, 2020
Atrioventricular septal defect 33Nov 24, 2020
Atrophia bulborum hereditaria1Nov 12, 2016
Atrophic scars3Dec 8, 2017
Atrophy/Degeneration affecting the brainstem2Nov 12, 2016
Attention deficit hyperactivity disorder4Dec 8, 2017
Aural atresia, congenital1Nov 24, 2020
Auriculocondylar syndrome 21Nov 24, 2020
Autism 51Nov 24, 2020
Autism, susceptibility to, 185Nov 24, 2020
Autism, susceptibility to, X-linked 11Nov 24, 2020
Autism, susceptibility to, X-linked 38Nov 24, 2020
Autistic behavior3Dec 8, 2017
Autistic disorder of childhood onset7Dec 8, 2017
Autoimmune disease, multisystem, infantile-onset, 12Nov 24, 2020
Autoimmune disease, syndromic multisystem2Nov 24, 2020
Autoinflammation with arthritis and dyskeratosis2Nov 24, 2020
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1Nov 24, 2020
Autosomal dominant medullary cystic kidney disease with hyperuricemia1Nov 24, 2020
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 22Nov 24, 2020
Autosomal recessive DOPA responsive dystonia5Nov 24, 2020
Autosomal recessive Kenny-Caffey syndrome1Nov 24, 2020
Autosomal recessive axonal neuropathy with neuromyotonia1Nov 24, 2020
Autosomal recessive congenital ichthyosis 22Nov 24, 2020
Autosomal recessive congenital ichthyosis 4B2Nov 24, 2020
Autosomal recessive cutis laxa type 2d2Nov 24, 2020
Autosomal recessive hypophosphatemic bone disease1Nov 24, 2020
Autosomal recessive hypophosphatemic vitamin D refractory rickets1Nov 24, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D3Nov 24, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2G2Nov 24, 2020
Autosomal recessive multiple pterygium syndrome4Nov 24, 2020
Autosomal recessive osteopetrosis 12Nov 24, 2020
Axenfeld-Rieger syndrome type 32Nov 24, 2020
Axial muscle stiffness1Dec 8, 2017
Axillary freckling8Dec 8, 2017
Azorean disease1Nov 24, 2020
BCC19Nov 24, 2020
BLOOD GROUP--LUTHERAN INHIBITOR1Nov 24, 2020
Babinski sign1Nov 12, 2016
Bainbridge-Ropers syndrome2Nov 24, 2020
Baraitser-Winter syndrome 11Nov 24, 2020
Bardet-Biedl syndrome 12Nov 24, 2020
Bardet-Biedl syndrome 101Nov 24, 2020
Bardet-Biedl syndrome 112Nov 24, 2020
Bardet-Biedl syndrome 121Nov 24, 2020
Bardet-Biedl syndrome 131Nov 24, 2020
Bardet-Biedl syndrome 161Nov 24, 2020
Bardet-Biedl syndrome 41Nov 24, 2020
Bardet-Biedl syndrome 51Nov 24, 2020
Bardet-Biedl syndrome 61Nov 24, 2020
Barrel-shaped chest2Dec 8, 2017
Bartter syndrome type 35Nov 24, 2020
Bartter syndrome, type 1, antenatal1Nov 24, 2020
Basal cell carcinoma1Nov 12, 2016
Basal ganglia calcification, idiopathic, 45Nov 24, 2020
Basal laminar drusen1Nov 24, 2020
Beaded hair1Nov 24, 2020
Beckwith-Wiedemann syndrome1Nov 24, 2020
Behavioral abnormality8Dec 8, 2017
Bell-shaped thorax1Nov 12, 2016
Benign familial hematuria3Nov 24, 2020
Benign familial neonatal seizures 22Nov 24, 2020
Benign recurrent intrahepatic cholestasis type 22Nov 24, 2020
Bethlem myopathy 24Nov 24, 2020
Bicuspid aortic valve4Dec 8, 2017
Bietti crystalline corneoretinal dystrophy1Nov 24, 2020
Bifid nail1Dec 8, 2017
Bifid nasal tip1Nov 12, 2016
Bilateral cleft lip and palate3Nov 12, 2016
Bilateral cleft palate1Dec 8, 2017
Bilateral conductive hearing impairment1Nov 12, 2016
Bilateral cryptorchidism6Dec 8, 2017
Bilateral microphthalmos1Nov 12, 2016
Bilateral ptosis3Dec 8, 2017
Bilateral sensorineural hearing impairment4Dec 8, 2017
Bilateral talipes equinovarus3Nov 12, 2016
Biotin-responsive basal ganglia disease1Nov 24, 2020
Biotinidase deficiency3Nov 24, 2020
Bipolar affective disorder1Dec 8, 2017
Birth length less than 3rd percentile1Dec 8, 2017
Blepharocheilodontic syndrome 21Nov 24, 2020
Blepharophimosis2Dec 8, 2017
Blepharophimosis - intellectual disability syndrome, SBBYS type6Nov 24, 2020
Blindness9Dec 8, 2017
Blue sclerae2Dec 8, 2017
Blurred vision4Dec 8, 2017
Borjeson-Forssman-Lehmann syndrome1Nov 24, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome4Nov 24, 2020
Bowed humerus1Nov 12, 2016
Bowel incontinence1Nov 12, 2016
Bowing of limbs due to multiple fractures1Dec 8, 2017
Bowing of the legs1Nov 12, 2016
Bowing of the long bones4Nov 12, 2016
Brachycephaly5Dec 8, 2017
Brachydactyly6Dec 8, 2017
Brachyturricephaly1Dec 8, 2017
Bradykinesia1Nov 12, 2016
Brain abnormalities, neurodegeneration, and dysosteosclerosis2Nov 24, 2020
Brain atrophy5Nov 12, 2016
Brain malformations and urinary tract defects1Nov 24, 2020
Brain small vessel disease 1 with or without ocular anomalies7Nov 24, 2020
Branchiooculofacial syndrome1Nov 24, 2020
Breast carcinoma10Dec 8, 2017
Breast-ovarian cancer, familial 216Nov 24, 2020
Breathing dysregulation5Dec 8, 2017
Breech presentation2Nov 12, 2016
Brittle cornea syndrome 13Nov 24, 2020
Brittle cornea syndrome 22Nov 24, 2020
Broad forehead3Dec 8, 2017
Broad thumb1Nov 12, 2016
Broad-based gait1Dec 8, 2017
Bruck syndrome 21Nov 24, 2020
Brugada syndrome 22Nov 24, 2020
Brugada syndrome 43Nov 24, 2020
Brugada syndrome 61Nov 24, 2020
Bruising susceptibility4Dec 8, 2017
Bruxism2Dec 8, 2017
Bulbous nose1Dec 8, 2017
Bulbous tips of toes1Dec 8, 2017
Bullous ichthyosiform erythroderma1Nov 12, 2016
CFHR5 deficiency1Nov 24, 2020
CHARGE association15Nov 24, 2020
CHIME syndrome4Nov 24, 2020
CK syndrome1Nov 24, 2020
CNS demyelination4Dec 8, 2017
CNS hypomyelination4Dec 8, 2017
CODAS syndrome3Nov 24, 2020
COG7 congenital disorder of glycosylation1Nov 24, 2020
Cachexia1Nov 12, 2016
Cafe-au-lait spot9Apr 8, 2020
Calcaneovalgus deformity1Nov 12, 2016
Calcium nephrolithiasis1Dec 8, 2017
Calcium oxalate urolithiasis2Nov 24, 2020
Calf muscle hypertrophy4Dec 8, 2017
Camptodactyly2Nov 12, 2016
Camptodactyly of 2nd-5th fingers1Apr 8, 2020
Camptodactyly of finger3Nov 12, 2016
Camptomelic dysplasia1Nov 24, 2020
Capillary hemangiomas1Nov 12, 2016
Carcinoma of cervix3Nov 24, 2020
Carcinoma of pancreas5Nov 24, 2020
Cardiac arrest1Nov 12, 2016
Cardiac arrhythmia, ankyrin B-related4Nov 24, 2020
Cardiac conduction disease with or without dilated cardiomyopathy1Nov 24, 2020
Cardiac rhabdomyoma1Nov 12, 2016
Cardiac shunt2Dec 8, 2017
Cardiac valvular dysplasia, X-linked7Nov 24, 2020
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency2Nov 24, 2020
Cardiofaciocutaneous syndrome 15Nov 24, 2020
Cardiofaciocutaneous syndrome 41Nov 24, 2020
Cardiomyopathy4Dec 8, 2017
Cardiomyopathy, familial hypertrophic, 2612Nov 24, 2020
Cardiomyopathy, left ventricular noncompaction2Dec 8, 2017
Carney complex variant3Nov 24, 2020
Carnitine palmitoyltransferase 1A deficiency3Nov 24, 2020
Carnitine palmitoyltransferase II deficiency, lethal neonatal1Nov 24, 2020
Carotid artery stenosis1Dec 8, 2017
Carpenter syndrome 21Nov 24, 2020
Cataplexy2Nov 12, 2016
Cataract (disease)10Dec 8, 2017
Cataract 16, multiple types1Nov 24, 2020
Cataract 21, multiple types1Nov 24, 2020
Cataract 3, multiple types3Nov 24, 2020
Cataract 301Nov 24, 2020
Cataract 401Nov 24, 2020
Cataract 452Nov 24, 2020
Cataract 5 multiple types1Nov 24, 2020
Cataract, juvenile, with microcornea and glucosuria1Nov 24, 2020
Catecholaminergic polymorphic ventricular tachycardia type 19Nov 24, 2020
Caudate atrophy1Nov 12, 2016
Cavernous hemangioma4Dec 8, 2017
Central hypotonia3Nov 12, 2016
Central hypoventilation4Nov 12, 2016
Central scotoma4Dec 8, 2017
Central sleep apnea syndrome2Dec 8, 2017
Cerebellar ataxia20Dec 8, 2017
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant2Nov 24, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 31Nov 24, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42Nov 24, 2020
Cerebellar ataxia, nonprogressive, with mental retardation6Nov 24, 2020
Cerebellar atrophy7Dec 8, 2017
Cerebellar cyst2Nov 12, 2016
Cerebellar hemangioblastoma1Dec 8, 2017
Cerebellar hemisphere hypoplasia2Dec 8, 2017
Cerebellar malformation2Dec 8, 2017
Cerebellar vermis hypoplasia6Dec 8, 2017
Cerebral amyloid angiopathy, APP-related2Nov 24, 2020
Cerebral arteriovenous malformation4Dec 8, 2017
Cerebral atrophy4Dec 8, 2017
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 112Nov 24, 2020
Cerebral cavernous malformation6Nov 24, 2020
Cerebral cavernous malformations 31Nov 24, 2020
Cerebral cortical atrophy5Dec 8, 2017
Cerebral hypoplasia2Nov 12, 2016
Cerebral palsy, spastic quadriplegic, 11Nov 24, 2020
Cerebral palsy, spastic quadriplegic, 21Nov 24, 2020
Cerebrooculofacioskeletal syndrome 14Nov 24, 2020
Cerebroretinal microangiopathy with calcifications and cysts 11Nov 24, 2020
Ceroid lipofuscinosis neuronal 22Nov 24, 2020
Ceroid lipofuscinosis, neuronal, 111Nov 24, 2020
Char syndrome1Nov 24, 2020
Charcot-Marie-Tooth Neuropathy X Type 12Nov 24, 2020
Charcot-Marie-Tooth disease axonal type 2C8Nov 24, 2020
Charcot-Marie-Tooth disease type 2P2Nov 24, 2020
Charcot-Marie-Tooth disease, X-linked dominant, 61Nov 24, 2020
Charcot-Marie-Tooth disease, axonal, type 2O9Nov 24, 2020
Charcot-Marie-Tooth disease, demyelinating, type 1f4Nov 24, 2020
Charcot-Marie-Tooth disease, demyelinating, type 4F4Nov 24, 2020
Charcot-Marie-Tooth disease, dominant intermediate E2Nov 24, 2020
Charcot-Marie-Tooth disease, type 1C1Nov 24, 2020
Charcot-Marie-Tooth disease, type 2L1Nov 24, 2020
Charcot-Marie-Tooth disease, type 4A2Nov 24, 2020
Charcot-Marie-Tooth disease, type 4B21Nov 24, 2020
Charcot-Marie-Tooth disease, type 4B31Nov 24, 2020
Charcot-Marie-Tooth disease, type 4D1Nov 24, 2020
Charlevoix-Saguenay spastic ataxia2Nov 24, 2020
Chest pain2Dec 8, 2017
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Nov 24, 2020
Choanal atresia1Dec 8, 2017
Choanal stenosis1Dec 8, 2017
Cholestanol storage disease1Nov 24, 2020
Cholestasis, intrahepatic, of pregnancy 31Nov 24, 2020
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia1Nov 24, 2020
Chondrosarcoma3Nov 24, 2020
Chorea1Nov 12, 2016
Choreoacanthocytosis2Nov 24, 2020
Choreoathetosis1Dec 8, 2017
Chorioretinal atrophy1Dec 8, 2017
Chorioretinal coloboma1Dec 8, 2017
Choroidal dystrophy, central areolar 17Nov 24, 2020
Choroidal neovascularization4Dec 8, 2017
Choroideremia1Nov 24, 2020
Christianson syndrome1Nov 24, 2020
Chromosome 2q32-q33 deletion syndrome4Nov 24, 2020
Chronic constipation1Nov 12, 2016
Chronic diarrhea1Nov 12, 2016
Chronic fatigue1Dec 8, 2017
Chronic infantile neurological, cutaneous and articular syndrome1Nov 24, 2020
Chronic kidney disease3Dec 8, 2017
Chronic pancreatitis2Dec 8, 2017
Chédiak-Higashi syndrome2Nov 24, 2020
Cigarette-paper scars1Dec 8, 2017
Ciliary dyskinesia, primary, 155Nov 24, 2020
Ciliary dyskinesia, primary, 171Nov 24, 2020
Ciliary dyskinesia, primary, 191Nov 24, 2020
Ciliary dyskinesia, primary, 34Nov 24, 2020
Ciliary dyskinesia, primary, 402Nov 24, 2020
Ciliary dyskinesia, primary, 51Nov 24, 2020
Ciliary dyskinesia, primary, 72Nov 24, 2020
Citrullinemia type I3Nov 24, 2020
Clark-Baraitser syndrome4Nov 24, 2020
Classic homocystinuria4Nov 24, 2020
Cleft of soft palate2Nov 12, 2016
Cleft palate6Dec 8, 2017
Cleft palate, psychomotor retardation, and distinctive facial features1Nov 24, 2020
Cleft upper lip1Nov 12, 2016
Clinodactyly5Apr 8, 2020
Clinodactyly of the 5th finger7Dec 8, 2017
Clonus2Dec 8, 2017
Clubfoot14Nov 24, 2020
Coarctation of aorta1Dec 8, 2017
Coarse facial features3Dec 8, 2017
Cobalamin deficiency2Dec 8, 2017
Cockayne syndrome1Nov 12, 2016
Coenzyme Q10 deficiency, primary, 61Nov 24, 2020
Coffin-Siris syndrome 115Nov 24, 2020
Coffin-Siris syndrome 101Nov 24, 2020
Coffin-Siris syndrome 61Nov 24, 2020
Coffin-Siris syndrome 71Nov 24, 2020
Coffin-Siris syndrome 83Nov 24, 2020
Cognitive impairment15Dec 8, 2017
Cogwheel rigidity2Dec 8, 2017
Cohen syndrome3Nov 24, 2020
Cohen-Gibson syndrome1Nov 24, 2020
Cole-Carpenter syndrome 11Nov 24, 2020
Coloboma of optic disc1Nov 24, 2020
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1Nov 24, 2020
Colonic neoplasm1Dec 8, 2017
Colorectal cancer5Nov 24, 2020
Colorectal polyposis2Dec 8, 2017
Combined d-2- and l-2-hydroxyglutaric aciduria1Nov 24, 2020
Combined deficiency of sialidase AND beta galactosidase1Nov 24, 2020
Combined immunodeficiency due to STIM1 deficiency1Nov 24, 2020
Combined malonic and methylmalonic aciduria1Nov 24, 2020
Combined oxidative phosphorylation deficiency 13Nov 24, 2020
Combined oxidative phosphorylation deficiency 103Nov 24, 2020
Combined oxidative phosphorylation deficiency 141Nov 24, 2020
Combined oxidative phosphorylation deficiency 153Nov 24, 2020
Combined oxidative phosphorylation deficiency 233Nov 24, 2020
Combined oxidative phosphorylation deficiency 271Nov 24, 2020
Combined oxidative phosphorylation deficiency 311Nov 24, 2020
Combined oxidative phosphorylation deficiency 441Nov 24, 2020
Combined oxidative phosphorylation deficiency 51Nov 24, 2020
Combined oxidative phosphorylation deficiency 84Nov 24, 2020
Common variable immunodeficiency 22Nov 24, 2020
Concave nasal ridge2Dec 8, 2017
Conductive hearing impairment3Dec 8, 2017
Cone dystrophy4Dec 8, 2017
Cone-rod dystrophy 123Nov 24, 2020
Cone-rod dystrophy 156Nov 24, 2020
Cone-rod dystrophy 161Nov 24, 2020
Cone-rod dystrophy 191Nov 24, 2020
Cone-rod dystrophy 51Nov 24, 2020
Cone-rod dystrophy 74Nov 24, 2020
Cone-rod dystrophy and hearing loss 11Nov 24, 2020
Congenital blindness1Nov 12, 2016
Congenital cataract1Nov 12, 2016
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Nov 24, 2020
Congenital central hypoventilation1Nov 24, 2020
Congenital cerebellar hypoplasia11Dec 8, 2017
Congenital contracture5Apr 8, 2020
Congenital diaphragmatic hernia1Nov 12, 2016
Congenital disorder of glycosylation type 1N1Nov 24, 2020
Congenital disorder of glycosylation type 1t1Nov 24, 2020
Congenital disorder of glycosylation type 2J1Nov 24, 2020
Congenital disorder of glycosylation type 2i1Nov 24, 2020
Congenital disorder of glycosylation, type Ia4Nov 24, 2020
Congenital dyserythropoietic anemia, type II4Nov 24, 2020
Congenital finger flexion contractures1Nov 12, 2016
Congenital heart defects and ectodermal dysplasia1Nov 24, 2020
Congenital heart defects and skeletal malformations syndrome2Nov 24, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Nov 24, 2020
Congenital hydrocephalus 11Nov 24, 2020
Congenital hypothyroidism1Nov 12, 2016
Congenital ichthyosiform erythroderma1Dec 8, 2017
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1Nov 24, 2020
Congenital microcephaly8Dec 8, 2017
Congenital muscular dystrophy9Nov 12, 2016
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B54Nov 24, 2020
Congenital muscular hypertrophy-cerebral syndrome3Nov 24, 2020
Congenital myasthenic syndrome2Nov 12, 2016
Congenital myasthenic syndrome 1A1Nov 24, 2020
Congenital myopathy with fiber type disproportion46Nov 24, 2020
Congenital myotonia, autosomal recessive form11Nov 24, 2020
Congenital nonbullous ichthyosiform erythroderma1Dec 8, 2017
Congenital ocular coloboma2Dec 8, 2017
Congenital omphalocele2Nov 12, 2016
Congenital primary aphakia1Nov 24, 2020
Congenital secretory diarrhea, chloride type1Nov 24, 2020
Congenital sensorineural hearing impairment10Dec 8, 2017
Congenital stationary night blindness, type 1A1Nov 24, 2020
Congenital stationary night blindness, type 1C1Nov 24, 2020
Congenital stationary night blindness, type 1E2Nov 24, 2020
Congenital stationary night blindness, type 2A4Nov 24, 2020
Congenital velopharyngeal incompetence1Dec 8, 2017
Congestive heart failure2Dec 8, 2017
Conjunctival telangiectasia1Nov 12, 2016
Connective tissue disease1Nov 12, 2016
Connective tissue nevi2Dec 8, 2017
Constipation4Dec 8, 2017
Constriction of peripheral visual field1Dec 8, 2017
Constrictive median neuropathy1Dec 8, 2017
Contractures of the joints of the lower limbs3Dec 8, 2017
Convex nasal ridge1Dec 8, 2017
Corneal dystrophy, Fuchs endothelial, 81Nov 24, 2020
Corneal opacity2Nov 12, 2016
Cornelia de Lange syndrome 18Nov 24, 2020
Cornelia de Lange syndrome 31Nov 24, 2020
Cornelia de Lange syndrome 54Nov 24, 2020
Coronal craniosynostosis1Dec 8, 2017
Coronary artery disease2Dec 8, 2017
Corpus callosum, agenesis of9Dec 8, 2017
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1Nov 24, 2020
Cortical dysplasia1Nov 12, 2016
Cortical dysplasia, complex, with other brain malformations 12Nov 24, 2020
Cortical dysplasia, complex, with other brain malformations 21Nov 24, 2020
Cortical dysplasia, complex, with other brain malformations 31Nov 24, 2020
Cortical dysplasia, complex, with other brain malformations 51Nov 24, 2020
Cortical malformations, occipital2Nov 24, 2020
Cortical tubers3Nov 12, 2016
Coxa plana1Dec 8, 2017
Cranial asymmetry2Dec 8, 2017
Cranioectodermal dysplasia 42Nov 24, 2020
Craniofacial disproportion1Dec 8, 2017
Craniolenticulosutural dysplasia1Nov 24, 2020
Craniometaphyseal dysplasia, autosomal dominant1Nov 24, 2020
Craniosynostosis 22Nov 24, 2020
Craniosynostosis 31Nov 24, 2020
Craniosynostosis 41Nov 12, 2016
Craniosynostosis syndrome5Dec 8, 2017
Creatine transporter deficiency1Nov 24, 2020
Crouzon syndrome1Dec 8, 2017
Crumpled long bones1Dec 8, 2017
Cryptophthalmia1Dec 8, 2017
Cryptorchidism4Dec 8, 2017
Cryptotia1Dec 8, 2017
Curry-Hall syndrome2Nov 24, 2020
Cutaneous finger syndactyly1Nov 12, 2016
Cutaneous leiomyoma1Dec 8, 2017
Cutaneous photosensitivity1Nov 12, 2016
Cutis laxa3Nov 12, 2016
Cutis laxa, X-linked5Nov 24, 2020
Cutis laxa, autosomal dominant 22Nov 24, 2020
Cutis laxa, autosomal dominant 34Nov 24, 2020
Cyanosis2Dec 8, 2017
Cystic renal dysplasia3Dec 8, 2017
Cystinuria1Nov 24, 2020
Cystoid macular edema1Dec 8, 2017
Cytochrome C oxidase-negative muscle fibers1Nov 12, 2016
D-2-hydroxyglutaric aciduria 21Nov 24, 2020
Danon disease1Nov 24, 2020
Deafness, autosomal dominant 13Nov 24, 2020
Deafness, autosomal dominant 1112Nov 24, 2020
Deafness, autosomal dominant 124Nov 24, 2020
Deafness, autosomal dominant 151Nov 24, 2020
Deafness, autosomal dominant 201Nov 24, 2020
Deafness, autosomal dominant 3a5Nov 24, 2020
Deafness, autosomal dominant 411Nov 24, 2020
Deafness, autosomal dominant 562Nov 24, 2020
Deafness, autosomal dominant 654Nov 24, 2020
Deafness, autosomal recessive 281Nov 24, 2020
Deafness, autosomal recessive 31Nov 24, 2020
Deafness, autosomal recessive 371Nov 24, 2020
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1Nov 24, 2020
Deafness, autosomal recessive 571Nov 24, 2020
Deafness, autosomal recessive 72Nov 24, 2020
Deafness, autosomal recessive 81Nov 24, 2020
Decreased activity of mitochondrial complex I1Nov 12, 2016
Decreased activity of the pyruvate dehydrogenase complex3Dec 8, 2017
Decreased body weight12Apr 8, 2020
Decreased calvarial ossification1Dec 8, 2017
Decreased glucosephosphate isomerase activity1Nov 12, 2016
Decreased lacrimation1Dec 8, 2017
Decreased light- and dark-adapted electroretinogram amplitude1Dec 8, 2017
Decreased muscle mass2Nov 12, 2016
Decreased nerve conduction velocity3Nov 12, 2016
Decreased patellar reflex2Nov 12, 2016
Deep philtrum1Nov 12, 2016
Deep venous thrombosis1Dec 8, 2017
Deeply set eye3Dec 8, 2017
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Nov 24, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Nov 24, 2020
Deficiency of acetyl-CoA acetyltransferase3Nov 24, 2020
Deficiency of alpha-mannosidase1Nov 24, 2020
Deficiency of aromatic-L-amino-acid decarboxylase1Nov 24, 2020
Deficiency of butyryl-CoA dehydrogenase1Nov 24, 2020
Deficiency of glycerate kinase2Nov 24, 2020
Deficiency of hydroxymethylglutaryl-CoA lyase2Nov 24, 2020
Deficiency of iodide peroxidase4Nov 24, 2020
Delayed fine motor development6Dec 8, 2017
Delayed gross motor development18Dec 8, 2017
Delayed myelination2Nov 12, 2016
Delayed puberty1Nov 12, 2016
Delayed speech and language development53Dec 8, 2017
Dementia7Dec 8, 2017
Dental crowding2Nov 12, 2016
Dental enamel pits1Nov 12, 2016
Dentinogenesis imperfecta - Shield's type II1Nov 24, 2020
Depressed nasal bridge3Dec 8, 2017
Depressivity3Dec 8, 2017
Dermatitis, atopic3Dec 8, 2017
Dermatofibrosis lenticularis disseminata1Nov 24, 2020
Deuteranopia1Nov 24, 2020
Developmental and epileptic encephalopathy, 601Nov 24, 2020
Developmental and epileptic encephalopathy, 662Nov 24, 2020
Developmental and epileptic encephalopathy, 692Nov 24, 2020
Developmental and epileptic encephalopathy, 741Nov 24, 2020
Developmental and epileptic encephalopathy, 771Nov 24, 2020
Developmental delay6Nov 12, 2016
Developmental delay with variable intellectual impairment and behavioral abnormalities1Nov 24, 2020
Developmental delay, intellectual disability, obesity, and dysmorphic features1Nov 24, 2020
Developmental dysplasia of the hip4Dec 8, 2017
Developmental regression11Apr 8, 2020
Deviated nasal septum1Dec 8, 2017
Diabetes mellitus1Nov 12, 2016
Diamond-Blackfan anemia 101Nov 24, 2020
Diamond-Blackfan anemia 131Nov 24, 2020
Diarrhea 61Nov 24, 2020
Dicarboxylic aminoaciduria1Nov 24, 2020
Difficulty climbing stairs1Dec 8, 2017
Difficulty standing3Dec 8, 2017
Difficulty walking18Dec 8, 2017
Diffuse palmoplantar hyperkeratosis1Nov 12, 2016
Digital clubbing, isolated congenital1Nov 24, 2020
Dilatation5Dec 8, 2017
Dilatation of ascending aorta3Nov 12, 2016
Dilatation of the ascending aorta1Nov 12, 2016
Dilatation of the cerebral artery1Nov 12, 2016
Dilatation of the sinus of Valsalva1Dec 8, 2017
Dilated cardiomyopathy 1A9Nov 24, 2020
Dilated cardiomyopathy 1AA1Nov 24, 2020
Dilated cardiomyopathy 1C3Nov 24, 2020
Dilated cardiomyopathy 1CC1Nov 24, 2020
Dilated cardiomyopathy 1DD2Nov 24, 2020
Dilated cardiomyopathy 1JJ3Nov 24, 2020
Dilated cardiomyopathy 1KK4Nov 24, 2020
Dilated cardiomyopathy 1O2Nov 24, 2020
Dilated cardiomyopathy 1Y4Nov 24, 2020
Dilated cardiomyopathy 3B17Nov 24, 2020
Dilation of lateral ventricles2Dec 8, 2017
Disproportionate short stature1Dec 8, 2017
Disproportionate short-limb short stature4Dec 8, 2017
Disproportionate short-trunk short stature2Nov 12, 2016
Disproportionate tall stature1Dec 8, 2017
Dissecting aortic dilatation1Nov 12, 2016
Distal amyotrophy1Dec 8, 2017
Distal arthrogryposis5Dec 8, 2017
Distal hereditary motor neuronopathy 2D1Nov 24, 2020
Distal hereditary motor neuronopathy type 2B1Nov 24, 2020
Distal hereditary motor neuronopathy type 2C1Nov 24, 2020
Distal lower limb amyotrophy4Dec 8, 2017
Distal lower limb muscle weakness6Dec 8, 2017
Distal muscle weakness12Dec 8, 2017
Distal sensory impairment3Dec 8, 2017
Dolichocephaly11Dec 8, 2017
Dopa-responsive dystonia due to sepiapterin reductase deficiency3Nov 24, 2020
Double outlet right ventricle1Dec 8, 2017
Downslanted palpebral fissures9Dec 8, 2017
Downturned corners of mouth4Dec 8, 2017
Drooling2Dec 8, 2017
Dry skin3Dec 8, 2017
Duane retraction syndrome 21Nov 24, 2020
Duane-radial ray syndrome1Nov 24, 2020
Dubin-Johnson syndrome1Nov 24, 2020
Duodenal polyposis1Dec 8, 2017
Duodenal stenosis1Dec 8, 2017
Dural ectasia2Dec 8, 2017
Dysarthria14Dec 8, 2017
Dyschromatopsia1Dec 8, 2017
Dyskeratosis congenita, X-linked1Nov 24, 2020
Dyskeratosis congenita, autosomal dominant, 31Nov 24, 2020
Dyskinesia1Dec 8, 2017
Dyskinesia, familial, with facial myokymia1Nov 24, 2020
Dyskinesia, seizures, and intellectual developmental disorder2Nov 24, 2020
Dysmetria2Nov 12, 2016
Dysmyelinating leukodystrophy2Nov 12, 2016
Dysphagia2Nov 12, 2016
Dysphasia1Apr 8, 2020
Dysphonia1Dec 8, 2017
Dyspnea6Dec 8, 2017
Dystonia11Dec 8, 2017
Dystonia 127Nov 24, 2020
Dystonia 161Nov 24, 2020
Dystonia 241Nov 24, 2020
Dystonia 28, childhood-onset2Nov 24, 2020
Dystonia 51Nov 24, 2020
EEG abnormality4Dec 8, 2017
EEG with generalized slow activity4Dec 8, 2017
EEG with periodic abnormalities1Dec 8, 2017
EEM syndrome1Nov 24, 2020
EMG abnormality16Dec 8, 2017
EMG: axonal abnormality6Dec 8, 2017
EMG: myopathic abnormalities15Dec 8, 2017
EMG: myotonic discharges3Dec 8, 2017
EMG: myotonic runs3Dec 8, 2017
EMG: neuropathic changes5Dec 8, 2017
Ear malformation1Dec 8, 2017
Early infantile epileptic encephalopathy 134Nov 24, 2020
Early infantile epileptic encephalopathy 171Nov 24, 2020
Early infantile epileptic encephalopathy 183Nov 24, 2020
Early infantile epileptic encephalopathy 23Nov 24, 2020
Early infantile epileptic encephalopathy 341Nov 24, 2020
Early infantile epileptic encephalopathy 57Nov 24, 2020
Early infantile epileptic encephalopathy 78Nov 24, 2020
Early infantile epileptic encephalopathy 81Nov 24, 2020
Early infantile epileptic encephalopathy 93Nov 24, 2020
Ectodermal dysplasia1Dec 8, 2017
Ectopia lentis4Apr 8, 2020
Ectopic thymus tissue1Dec 8, 2017
Edema of the dorsum of feet2Nov 12, 2016
Edema of the lower limbs2Dec 8, 2017
Ehlers-Danlos syndrome classic type 217Nov 24, 2020
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1Nov 24, 2020
Ehlers-Danlos syndrome, hydroxylysine-deficient1Nov 24, 2020
Ehlers-Danlos syndrome, type 41Nov 12, 2016
Ehlers-Danlos syndrome, type 81Nov 24, 2020
Elbow flexion contracture2Nov 12, 2016
Electronegative electroretinogram1Dec 8, 2017
Elevated 7-dehydrocholesterol2Nov 12, 2016
Elevated alkaline phosphatase1Nov 12, 2016
Elevated diastolic blood pressure1Nov 12, 2016
Elevated hepatic transaminases4Dec 8, 2017
Elevated mean arterial pressure1Dec 8, 2017
Elevated right atrial pressure1Nov 12, 2016
Elevated serum creatine phosphokinase16Dec 8, 2017
Elevated systolic blood pressure1Nov 12, 2016
Elevated urinary delta-aminolevulinic acid1Nov 12, 2016
Emery-Dreifuss muscular dystrophy 5, autosomal dominant7Nov 24, 2020
Encephalitis1Dec 8, 2017
Encephalocele2Dec 8, 2017
Encephalocraniocutaneous lipomatosis3Nov 24, 2020
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Nov 24, 2020
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 82Nov 24, 2020
Encephalopathy, acute, infection-induced, 3, suceptibility to1Nov 24, 2020
Encephalopathy, progressive, with or without lipodystrophy1Nov 24, 2020
Endometrial carcinoma6Nov 24, 2020
Enhanced s-cone syndrome3Nov 24, 2020
Enlarged cisterna magna2Dec 8, 2017
Enlarged kidney1Dec 8, 2017
Epicanthus7Dec 8, 2017
Epidermal nevus2Nov 24, 2020
Epidermolysis bullosa pruriginosa10Nov 24, 2020
Epidermolysis bullosa simplex, Koebner type2Nov 24, 2020
Epidermolysis bullosa simplex, autosomal recessive 21Nov 24, 2020
Epidermolysis bullosa simplex, generalized, with scarring and hair loss1Nov 24, 2020
Epilepsy2Nov 12, 2016
Epilepsy, X-linked, with variable learning disabilities and behavior disorders3Nov 24, 2020
Epilepsy, early-onset, with or without developmental delay3Nov 24, 2020
Epilepsy, familial focal, with variable foci 14Nov 24, 2020
Epilepsy, familial focal, with variable foci 21Nov 24, 2020
Epilepsy, familial focal, with variable foci 31Nov 24, 2020
Epilepsy, familial focal, with variable foci 41Nov 24, 2020
Epilepsy, familial temporal lobe, 711Nov 24, 2020
Epilepsy, familial temporal lobe, 81Nov 24, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation5Nov 24, 2020
Epilepsy, idiopathic generalized 101Nov 24, 2020
Epilepsy, idiopathic generalized, susceptibility to, 122Nov 24, 2020
Epilepsy, nocturnal frontal lobe, 55Nov 24, 2020
Epilepsy, nocturnal frontal lobe, type 11Nov 24, 2020
Epilepsy, nocturnal frontal lobe, type 43Nov 24, 2020
Epilepsy, progressive myoclonic 74Nov 24, 2020
Epilepsy, progressive myoclonic 81Nov 24, 2020
Epileptic encephalopathy15Apr 8, 2020
Epileptic encephalopathy, childhood-onset5Nov 24, 2020
Epileptic encephalopathy, early infantile, 191Nov 24, 2020
Epileptic encephalopathy, early infantile, 285Nov 24, 2020
Epileptic encephalopathy, early infantile, 301Nov 24, 2020
Epileptic encephalopathy, early infantile, 351Nov 24, 2020
Epileptic encephalopathy, early infantile, 412Nov 24, 2020
Epileptic encephalopathy, early infantile, 431Nov 24, 2020
Epileptic encephalopathy, early infantile, 501Nov 24, 2020
Epileptic encephalopathy, early infantile, 533Nov 24, 2020
Epileptic encephalopathy, early infantile, 542Nov 24, 2020
Epileptic encephalopathy, infantile or early childhood 11Nov 24, 2020
Epileptic encephalopathy, infantile or early childhood 21Nov 24, 2020
Epileptic spasms1Dec 8, 2017
Epiphyseal dysplasia, multiple, 21Nov 24, 2020
Epiphyseal dysplasia, multiple, 31Nov 24, 2020
Episodic fever1Dec 8, 2017
Episodic hemiplegia1Nov 12, 2016
Episodic pain syndrome, familial, 23Nov 24, 2020
Episodic vomiting1Dec 8, 2017
Epistaxis3Dec 8, 2017
Epithelial recurrent erosion dystrophy4Nov 24, 2020
Equinovarus deformity1Dec 8, 2017
Erythema2Nov 12, 2016
Erythroderma2Nov 12, 2016
Erythroid hypoplasia1Dec 8, 2017
Erythrokeratodermia variabilis et progressiva 11Nov 24, 2020
Esotropia1Dec 8, 2017
Essential hypertension1Nov 24, 2020
Ethylmalonic encephalopathy1Nov 24, 2020
Even-plus syndrome1Nov 24, 2020
Ewing's sarcoma1Nov 24, 2020
Excessive wrinkled skin1Dec 8, 2017
Exercise intolerance1Dec 8, 2017
Exercise-induced muscle cramps1Nov 12, 2016
Exercise-induced muscle fatigue1Nov 12, 2016
Exercise-induced muscle stiffness1Nov 12, 2016
Exercise-induced myalgia7Dec 8, 2017
Exercise-induced rhabdomyolysis1Nov 12, 2016
Exostoses1Dec 8, 2017
Expressive language delay2Nov 12, 2016
External ophthalmoplegia2Dec 8, 2017
Exudative retinopathy1Dec 8, 2017
Exudative vitreoretinopathy 12Nov 24, 2020
Exudative vitreoretinopathy 43Nov 24, 2020
Exudative vitreoretinopathy 51Nov 24, 2020
Exudative vitreoretinopathy 61Nov 24, 2020
FG syndrome 42Nov 24, 2020
FRAXE2Nov 24, 2020
Fabry disease3Nov 24, 2020
Facial asymmetry7Apr 8, 2020
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome2Nov 24, 2020
Facial grimacing1Nov 12, 2016
Facial hemangioma1Dec 8, 2017
Factor VII deficiency2Nov 24, 2020
Factor XII deficiency disease1Nov 24, 2020
Failure to thrive7Dec 8, 2017
Fair hair2Dec 8, 2017
Falls1Dec 8, 2017
Familial X-linked hypophosphatemic vitamin D refractory rickets1Nov 24, 2020
Familial adenomatous polyposis 31Nov 24, 2020
Familial cancer of breast39Nov 24, 2020
Familial episodic pain syndrome 11Nov 24, 2020
Familial hemiplegic migraine type 110Nov 24, 2020
Familial hemiplegic migraine type 23Nov 24, 2020
Familial hemiplegic migraine type 319Nov 24, 2020
Familial hyperaldosteronism type 31Nov 24, 2020
Familial hypercholesterolemia 12Nov 24, 2020
Familial hyperkalemic periodic paralysis7Nov 24, 2020
Familial hypertrophic cardiomyopathy 11Nov 24, 2020
Familial hypertrophic cardiomyopathy 121Nov 24, 2020
Familial hypertrophic cardiomyopathy 142Nov 24, 2020
Familial hypertrophic cardiomyopathy 181Nov 24, 2020
Familial hypertrophic cardiomyopathy 412Nov 24, 2020
Familial isolated deficiency of vitamin E1Nov 24, 2020
Familial platelet disorder with associated myeloid malignancy1Nov 24, 2020
Familial temporal lobe epilepsy 11Nov 24, 2020
Fanconi anemia, complementation group A1Nov 24, 2020
Fanconi anemia, complementation group C1Nov 24, 2020
Fanconi anemia, complementation group E1Nov 24, 2020
Fanconi anemia, complementation group J7Nov 24, 2020
Fanconi anemia, complementation group O3Nov 24, 2020
Fanconi anemia, complementation group P1Nov 24, 2020
Fanconi anemia, complementation group Q1Nov 24, 2020
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2Nov 24, 2020
Fatigue2Dec 8, 2017
Fatty replacement of skeletal muscle4Dec 8, 2017
Febrile seizures6Dec 8, 2017
Feeding difficulties8Dec 8, 2017
Feeding difficulties in infancy1Nov 12, 2016
Female external genitalia in individual with 46,XY karyotype1Dec 8, 2017
Female infertility1Nov 12, 2016
Femoral bowing4Dec 8, 2017
Fetal akinesia deformation sequence 31Nov 24, 2020
Fetal megacystis1Nov 12, 2016
Fever2Nov 12, 2016
Finger syndactyly4Dec 8, 2017
Finnish congenital nephrotic syndrome5Nov 24, 2020
Flat occiput2Dec 8, 2017
Flexion contracture3Dec 8, 2017
Floating-Harbor syndrome1Nov 24, 2020
Focal T2 hyperintense basal ganglia lesion1Dec 8, 2017
Focal cortical dysplasia type II4Nov 24, 2020
Focal segmental glomerulosclerosis3Dec 8, 2017
Focal segmental glomerulosclerosis 11Nov 24, 2020
Focal segmental glomerulosclerosis 3, susceptibility to1Nov 24, 2020
Focal seizures4Dec 8, 2017
Focal white matter lesions2Nov 12, 2016
Fontaine progeroid syndrome2Dec 23, 2016
Foot dorsiflexor weakness5Dec 8, 2017
Foot polydactyly1Dec 8, 2017
Foveal hypoplasia4Dec 8, 2017
Fractures of the long bones1Dec 8, 2017
Fragile X syndrome1Nov 24, 2020
Fragile skin1Nov 12, 2016
Fraser syndrome 11Nov 24, 2020
Fraser syndrome 21Nov 24, 2020
Fraser syndrome 31Nov 24, 2020
Frontal bossing1Dec 8, 2017
Frontal cortical atrophy1Dec 8, 2017
Frontoparietal polymicrogyria1Dec 8, 2017
Frontotemporal cerebral atrophy1Nov 12, 2016
Frontotemporal dementia3Nov 24, 2020
Fumarase deficiency3Nov 24, 2020
GM1 gangliosidosis type 31Nov 24, 2020
GNE myopathy1Nov 24, 2020
Gabriele de Vries syndrome1Nov 24, 2020
Gait ataxia11Dec 8, 2017
Gait disturbance7Dec 8, 2017
Gait imbalance6Dec 8, 2017
Galactosylceramide beta-galactosidase deficiency6Nov 24, 2020
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1Nov 24, 2020
Gastric polyposis1Dec 8, 2017
Gastroesophageal reflux9Dec 8, 2017
Gastrointestinal carcinoma2Dec 8, 2017
Gastrointestinal stromal tumor1Nov 12, 2016
Gaucher disease, perinatal lethal9Nov 24, 2020
Gaze palsy, familial horizontal, with progressive scoliosis, 21Nov 24, 2020
Geleophysic dysplasia 13Nov 24, 2020
Generalized arterial calcification of infancy 26Nov 24, 2020
Generalized dystonia1Nov 12, 2016
Generalized epilepsy with febrile seizures plus, type 91Nov 24, 2020
Generalized hyperreflexia2Nov 12, 2016
Generalized hypopigmentation1Nov 12, 2016
Generalized hypotonia32Dec 8, 2017
Generalized joint laxity3Dec 8, 2017
Generalized muscle weakness2Nov 12, 2016
Generalized myoclonic seizures2Nov 12, 2016
Generalized neonatal hypotonia2Dec 8, 2017
Generalized seizures1Dec 8, 2017
Generalized tonic-clonic seizures4Dec 8, 2017
Genu valgum2Dec 8, 2017
Genu varum2Dec 8, 2017
Geroderma osteodysplastica1Nov 24, 2020
Giant axonal neuropathy 2, autosomal dominant1Nov 24, 2020
Gillespie syndrome2Nov 24, 2020
Gingival fibromatosis 18Nov 24, 2020
Gingival overgrowth1Nov 12, 2016
Glabellar hemangioma2Nov 12, 2016
Glaucoma2Nov 12, 2016
Glaucoma 1, open angle, A1Nov 24, 2020
Glaucoma 3, primary congenital, A2Nov 24, 2020
Glaucoma 3, primary congenital, E2Nov 24, 2020
Glaucoma 3, primary infantile, b2Nov 24, 2020
Glaucoma, primary closed-angle4Nov 24, 2020
Global brain atrophy2Dec 8, 2017
Global developmental delay108May 21, 2020
Global glomerulosclerosis1Dec 8, 2017
Glomerulopathy1Nov 12, 2016
Glomuvenous malformations1Nov 24, 2020
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency3Nov 24, 2020
Glucocorticoid deficiency with achalasia1Nov 24, 2020
Glucose intolerance1Dec 8, 2017
Glutaric aciduria, type 12Nov 24, 2020
Glycogen storage disease IXb1Nov 24, 2020
Glycogen storage disease IXd2Nov 24, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Nov 12, 2016
Glycogen storage disease due to muscle beta-enolase deficiency1Nov 24, 2020
Glycogen storage disease type IXa12Nov 24, 2020
Glycogen storage disease, type II4Nov 24, 2020
Glycogen storage disease, type IV3Nov 24, 2020
Glycogen storage disease, type VI1Nov 24, 2020
Gnathodiaphyseal dysplasia6Nov 24, 2020
Gonadotropin-independent familial sexual precocity1Nov 24, 2020
Gout2Dec 8, 2017
Growth delay10Dec 8, 2017
Growth delay due to insulin-like growth factor I resistance1Nov 24, 2020
Growth hormone deficiency1Nov 12, 2016
Gynecomastia1Dec 8, 2017
Hamartoma2Nov 12, 2016
Hammertoe5Nov 12, 2016
Hand muscle atrophy2Nov 12, 2016
Hand oligodactyly1Nov 12, 2016
Hand tremor8Dec 8, 2017
Handgrip myotonia1Nov 12, 2016
Harel-Yoon syndrome1Nov 24, 2020
Headache8Apr 8, 2020
Hearing abnormality1Dec 8, 2017
Hearing impairment31Dec 8, 2017
Hearing loss1May 21, 2020
Heart block1Dec 8, 2017
Heart disease2Nov 12, 2016
Heart, malformation of1Dec 8, 2017
Helsmoortel-Van der Aa Syndrome3Nov 24, 2020
Hemangioma3Dec 8, 2017
Hematuria9Apr 8, 2020
Hemihypertrophy2Nov 12, 2016
Hemimegalencephaly2Dec 8, 2017
Hemiparesis4Apr 8, 2020
Hemiplegia7Dec 8, 2017
Hemivertebrae2Dec 8, 2017
Hemochromatosis type 11Nov 24, 2020
Hemolytic anemia2Dec 8, 2017
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1Nov 24, 2020
Hennekam lymphangiectasia-lymphedema syndrome 22Nov 24, 2020
Heparin cofactor II deficiency1Nov 24, 2020
Hepatic cysts3Dec 8, 2017
Hepatic lipase deficiency1Nov 24, 2020
Hepatic steatosis3Dec 8, 2017
Hepatomegaly2Dec 8, 2017
Hepatosplenomegaly3Dec 8, 2017
Hereditary cancer5Nov 12, 2016
Hereditary cryohydrocytosis with normal stomatin1Nov 24, 2020
Hereditary factor VIII deficiency disease2Nov 24, 2020
Hereditary fructosuria1Nov 24, 2020
Hereditary hearing loss and deafness1Nov 16, 2017
Hereditary insensitivity to pain with anhidrosis1Nov 24, 2020
Hereditary leiomyomatosis and renal cell cancer1Dec 8, 2017
Hereditary lymphedema type I3Nov 24, 2020
Hereditary mixed polyposis syndrome 21Nov 24, 2020
Hereditary motor and sensory neuropathy with optic atrophy6Nov 24, 2020
Hereditary nonpolyposis colorectal carcinoma1Dec 8, 2017
Hereditary palmoplantar keratoderma2Nov 12, 2016
Hereditary pancreatitis6Nov 24, 2020
Hereditary sensory and autonomic neuropathy type IC1Nov 24, 2020
Hereditary sensory and autonomic neuropathy type IIA16Nov 24, 2020
Hereditary sensory neuropathy type 1D2Nov 24, 2020
Hereditary spastic paraplegia 152Nov 24, 2020
Hereditary spastic paraplegia 261Nov 24, 2020
Hereditary spastic paraplegia 5A1Nov 24, 2020
Hereditary spastic paraplegia 63Nov 24, 2020
Hereditary spastic paraplegia 74Nov 24, 2020
Hermansky-Pudlak syndrome 11Nov 24, 2020
Hermansky-Pudlak syndrome 31Nov 24, 2020
Heterochromia iridis1Nov 12, 2016
Heterotaxy, visceral, 8, autosomal2Nov 24, 2020
Heterotopia2Dec 8, 2017
Heterotopia, periventricular, autosomal recessive1Nov 24, 2020
High anterior hairline1Nov 12, 2016
High forehead5Dec 8, 2017
High palate15Dec 8, 2017
High pitched voice1Nov 12, 2016
High, narrow palate1Nov 12, 2016
High-frequency hearing impairment1Dec 8, 2017
Hip contracture1Apr 8, 2020
Hip dysplasia1Nov 12, 2016
Hip flexor weakness1Dec 8, 2017
Hirschsprung disease 32Nov 24, 2020
Hirsutism3Dec 8, 2017
Holoprosencephaly 114Nov 24, 2020
Holoprosencephaly 53Nov 24, 2020
Holoprosencephaly 94Nov 24, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency3Nov 24, 2020
Horizontal nystagmus9Dec 8, 2017
Horseshoe kidney3Apr 8, 2020
Hydrocele testis1Dec 8, 2017
Hydrocephalus3Dec 8, 2017
Hydrocephalus, congenital, 3, with brain anomalies1Nov 24, 2020
Hydrolethalus syndrome 22Nov 24, 2020
Hydronephrosis1Dec 8, 2017
Hydrops fetalis1Dec 8, 2017
Hyperactivity6Dec 8, 2017
Hyperaldosteronism, familial, type I3Nov 24, 2020
Hyperammonemia4Dec 8, 2017
Hyperammonemia, type III1Nov 24, 2020
Hyperbilirubinemia1Nov 12, 2016
Hypercalcemia1Nov 12, 2016
Hypercalcemia, infantile, 11Nov 24, 2020
Hyperechogenic kidneys5Dec 8, 2017
Hyperekplexia 12Nov 24, 2020
Hyperextensibility at elbow3Apr 8, 2020
Hyperextensibility of the finger joints2Dec 8, 2017
Hyperextensible hand joints5Apr 8, 2020
Hyperextensible skin4Dec 8, 2017
Hyperglycemia1Dec 8, 2017
Hyperimmunoglobulin D with periodic fever1Nov 24, 2020
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive4Nov 24, 2020
Hyperinsulinemia1Nov 12, 2016
Hyperinsulinism-hyperammonemia syndrome1Nov 24, 2020
Hyperkalemia3Dec 8, 2017
Hyperlipidemia3Dec 8, 2017
Hyperlipidemia, familial combined, LPL related1Nov 24, 2020
Hypermagnesemia2Dec 8, 2017
Hypermetropia4Dec 8, 2017
Hyperparathyroidism 11Nov 24, 2020
Hyperphosphatasia with mental retardation syndrome 21Nov 24, 2020
Hyperphosphatasia with mental retardation syndrome 31Nov 24, 2020
Hyperpigmentation of the skin3Nov 12, 2016
Hyperplasia of midface1Dec 8, 2017
Hyperplastic colonic polyposis1Dec 8, 2017
Hyperreflexia3Dec 8, 2017
Hypertelorism20Dec 8, 2017
Hypertelorism, Teebi type1Nov 24, 2020
Hypertensive disorder19Dec 8, 2017
Hyperthyroidism, nonautoimmune1Nov 24, 2020
Hypertonia5Dec 8, 2017
Hypertrichosis7Dec 8, 2017
Hypertrophic cardiomyopathy21Dec 8, 2017
Hypobetalipoproteinemia, familial, 14Nov 24, 2020
Hypocalcemia1Nov 12, 2016
Hypocalcemia, autosomal dominant 13Nov 24, 2020
Hypocalciuria1Nov 12, 2016
Hypoglycemia6Dec 8, 2017
Hypoglycemic encephalopathy1Nov 12, 2016
Hypogonadotropic hypogonadism 11 with or without anosmia1Nov 24, 2020
Hypogonadotropic hypogonadism 15 with or without anosmia1Nov 24, 2020
Hypogonadotropic hypogonadism 19 with or without anosmia1Nov 24, 2020
Hypogonadotropic hypogonadism 4 with or without anosmia1Nov 24, 2020
Hypogonadotropic hypogonadism 6 with or without anosmia1Nov 24, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia6Nov 24, 2020
Hypogonadotropic hypogonadism 9 with or without anosmia1Nov 24, 2020
Hypointensity of cerebral white matter on MRI1Dec 8, 2017
Hypokalemia2Dec 8, 2017
Hypomagnesemia 4, renal1Nov 24, 2020
Hypomagnesemia 6, renal3Nov 24, 2020
Hypomagnesemia, seizures, and mental retardation 22Nov 24, 2020
Hypomimic face2Dec 8, 2017
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2Nov 24, 2020
Hypomyelination, global cerebral1Nov 24, 2020
Hypoparathyroidism-deafness-renal disease syndrome1Nov 24, 2020
Hypophosphatemic rickets1Nov 12, 2016
Hypophosphatemic rickets, autosomal recessive, 21Nov 24, 2020
Hypopigmentation of hair1Dec 8, 2017
Hypopigmentation of the skin3Dec 8, 2017
Hypopigmentation, organomegaly, and delayed myelination and development1Nov 24, 2020
Hypoplasia of penis1Dec 8, 2017
Hypoplasia of the brainstem2Dec 8, 2017
Hypoplasia of the corpus callosum10Dec 8, 2017
Hypoplasia of the maxilla3Dec 8, 2017
Hypoplastic acetabulae1Nov 12, 2016
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1Nov 24, 2020
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration3Nov 24, 2020
Hypospadias, penile6Dec 8, 2017
Hypotelorism3Dec 8, 2017
Hypotension1Dec 8, 2017
Hypothyroidism6Dec 8, 2017
Hypotonia, ataxia, and delayed development syndrome1Nov 24, 2020
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Nov 24, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 12Nov 24, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Nov 24, 2020
IFAP syndrome with or without BRESHECK syndrome2Nov 24, 2020
Ichthyosis (disease)7Dec 8, 2017
Ichthyosis vulgaris2Nov 24, 2020
Idiopathic basal ganglia calcification 12Nov 24, 2020
Idiopathic hypereosinophilic syndrome1Nov 24, 2020
Iminoglycinuria1Nov 24, 2020
Immunodeficiency2Nov 12, 2016
Immunodeficiency 141Nov 24, 2020
Immunodeficiency 362Nov 24, 2020
Immunodeficiency 421Nov 24, 2020
Immunodeficiency 471Nov 24, 2020
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1Nov 24, 2020
Immunoglobulin A deficiency 21Nov 24, 2020
Impaired gluconeogenesis1Dec 8, 2017
Impaired vibration sensation in the lower limbs6Dec 8, 2017
Imperforate anus2Dec 8, 2017
Inability to walk6Dec 8, 2017
Inability to walk by childhood/adolescence2Dec 8, 2017
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 12Nov 24, 2020
Incomprehensible speech1Dec 8, 2017
Incontinentia pigmenti syndrome1Nov 24, 2020
Increased CSF lactate2Dec 8, 2017
Increased IgE level2Nov 12, 2016
Increased body weight1Nov 12, 2016
Increased mean platelet volume2Dec 8, 2017
Increased muscle glycogen content1Nov 12, 2016
Increased pulmonary vascular resistance1Nov 12, 2016
Increased serum pyruvate2Dec 8, 2017
Increased susceptibility to fractures1Nov 12, 2016
Infantile Refsum's disease1Nov 24, 2020
Infantile axial hypotonia2Dec 8, 2017
Infantile convulsions and choreoathetosis5Nov 24, 2020
Infantile muscular hypotonia5Dec 8, 2017
Infantile onset1Nov 12, 2016
Infantile spasms3Dec 8, 2017
Infertility1Dec 8, 2017
Inflammatory bowel disease 25, autosomal recessive1Nov 24, 2020
Inguinal freckling3Dec 8, 2017
Inguinal hernia4Dec 8, 2017
Insulin resistance2Dec 8, 2017
Intellectual developmental disorder 611Nov 24, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis1Nov 24, 2020
Intellectual developmental disorder with severe speech and ambulation defects1Nov 24, 2020
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Nov 24, 2020
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2Nov 24, 2020
Intellectual developmental disorder, autosomal recessive 671Nov 24, 2020
Intellectual disability34Dec 8, 2017
Intellectual disability, X-linked 1061Nov 24, 2020
Intellectual disability, X-linked, syndromic, Houge type2Nov 24, 2020
Intellectual disability, autosomal dominant 457Nov 24, 2020
Intellectual disability, autosomal dominant 463Nov 24, 2020
Intellectual disability, autosomal dominant 502Nov 24, 2020
Intellectual disability, autosomal dominant 561Nov 24, 2020
Intellectual disability, autosomal recessive 611Nov 24, 2020
Intellectual disability, mild9Apr 8, 2020
Intellectual disability, moderate6Dec 8, 2017
Intellectual disability, profound1Nov 12, 2016
Intellectual disability, severe14Dec 8, 2017
Intellectual disability-developmental delay-contractures syndrome4Nov 24, 2020
Intention tremor1Nov 12, 2016
Intermittent diarrhea1Nov 12, 2016
Interosseus muscle atrophy1Dec 8, 2017
Intestinal polyp1Dec 8, 2017
Intestinal polyposis1Nov 12, 2016
Intracerebral periventricular calcifications1Dec 8, 2017
Intrahepatic Cholestasis1Nov 12, 2016
Intrauterine growth retardation8Dec 8, 2017
Iris coloboma3Dec 8, 2017
Iris transillumination defect1Dec 8, 2017
Irregular respiration1Dec 8, 2017
Ischemic stroke4Dec 8, 2017
Isolated sulfite oxidase deficiency1Nov 24, 2020
Isovaleryl-CoA dehydrogenase deficiency1Nov 24, 2020
Jaundice6Nov 12, 2016
Jervell and Lange-Nielsen syndrome 21Nov 24, 2020
Joint contracture of the hand1Dec 8, 2017
Joint dislocation1Nov 12, 2016
Joint hyperflexibility1Nov 12, 2016
Joint hypermobility21Apr 8, 2020
Joint laxity5Dec 8, 2017
Joubert syndrome6Dec 8, 2017
Joubert syndrome 14Nov 24, 2020
Joubert syndrome 211Nov 24, 2020
Joubert syndrome 232Nov 24, 2020
Joubert syndrome 517Nov 24, 2020
Joubert syndrome 75Nov 24, 2020
Joubert syndrome 95Nov 24, 2020
Juvenile osteochondrosis of spine1Dec 8, 2017
Juvenile retinoschisis3Nov 24, 2020
KBG syndrome9Nov 24, 2020
Kabuki syndrome 113Nov 24, 2020
Kabuki syndrome 21Nov 24, 2020
Kallmann syndrome 31Nov 24, 2020
Kaufman oculocerebrofacial syndrome1Nov 24, 2020
Kayser-Fleischer ring1Nov 12, 2016
Keratosis palmoplantaris striata II8Nov 24, 2020
Kleefstra syndrome 16Nov 24, 2020
Kleefstra syndrome 23Nov 24, 2020
Knee flexion contracture1Apr 8, 2020
Kohlschutter's syndrome3Nov 24, 2020
Koolen-de Vries syndrome2Nov 24, 2020
Kyphoscoliosis1Dec 8, 2017
Kyphosis1Nov 12, 2016
L-2-hydroxyglutaric aciduria1Nov 24, 2020
LEOPARD syndrome 110Nov 24, 2020
LEOPARD syndrome 22Nov 24, 2020
Lactic acidosis2Dec 8, 2017
Lafora disease1Nov 24, 2020
Lamb-shaffer syndrome1Nov 24, 2020
Language impairment1Nov 12, 2016
Large cafe-au-lait macules with irregular margins1Dec 8, 2017
Large fleshy ears1Dec 8, 2017
Large fontanelles1Dec 8, 2017
Large for gestational age4Dec 8, 2017
Large joint dislocations1Dec 8, 2017
Laryngeal cleft2Dec 8, 2017
Late-onset muscular dystrophy1Dec 8, 2017
Leber congenital amaurosis 115Nov 24, 2020
Leber congenital amaurosis 133Nov 24, 2020
Leber congenital amaurosis 154Nov 24, 2020
Leber congenital amaurosis 31Nov 24, 2020
Leber congenital amaurosis 51Nov 24, 2020
Leber congenital amaurosis 61Nov 24, 2020
Leber congenital amaurosis 91Nov 24, 2020
Leber congenital amaurosis with early-onset deafness1Nov 24, 2020
Left ventricular hypertrophy2Dec 8, 2017
Left ventricular noncompaction 12Nov 24, 2020
Left ventricular noncompaction 64Nov 24, 2020
Left ventricular noncompaction 83Nov 24, 2020
Legius syndrome1Nov 24, 2020
Leigh syndrome5Nov 24, 2020
Lens subluxation3Dec 8, 2017
Lenz-Majewski hyperostosis syndrome1Nov 24, 2020
Leprechaunism syndrome1Nov 24, 2020
Leptin receptor deficiency1Nov 24, 2020
Lesch-Nyhan syndrome1Nov 24, 2020
Lethal Kniest-like syndrome5Nov 24, 2020
Lethal congenital contracture syndrome 81Nov 24, 2020
Lethal osteosclerotic bone dysplasia1Nov 24, 2020
Lethal short-limbed short stature1Nov 12, 2016
Leukocyte adhesion deficiency 11Nov 24, 2020
Leukodystrophy6Dec 8, 2017
Leukodystrophy, adult-onset, autosomal dominant1Nov 24, 2020
Leukodystrophy, hypomyelinating, 111Nov 24, 2020
Leukodystrophy, hypomyelinating, 141Nov 24, 2020
Leukodystrophy, hypomyelinating, 41Nov 24, 2020
Leukodystrophy, hypomyelinating, 63Nov 24, 2020
Leukodystrophy, hypomyelinating, 91Nov 24, 2020
Leukoencephalopathy2Dec 8, 2017
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Nov 24, 2020
Leukoencephalopathy with vanishing white matter4Nov 24, 2020
Leukoencephalopathy, cystic, without megalencephaly2Nov 24, 2020
Leukopenia2Dec 8, 2017
Levy-Hollister syndrome1Nov 24, 2020
Limb muscle weakness1Nov 12, 2016
Limb pain6Dec 8, 2017
Limb tremor1Dec 8, 2017
Limb undergrowth3Nov 12, 2016
Limb-girdle muscle atrophy1Nov 12, 2016
Limb-girdle muscle weakness5Dec 8, 2017
Limb-girdle muscular dystrophy2Nov 12, 2016
Limb-girdle muscular dystrophy, type 1E1Nov 24, 2020
Limb-girdle muscular dystrophy, type 2Q6Nov 24, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C33Nov 24, 2020
Limb-mammary syndrome1Nov 24, 2020
Lip telangiectasia1Dec 8, 2017
Lipid proteinosis1Nov 24, 2020
Lisch nodules2Dec 8, 2017
Lissencephaly4Dec 8, 2017
Lissencephaly 31Nov 24, 2020
Lissencephaly 42Nov 24, 2020
Lissencephaly 52Nov 24, 2020
Lissencephaly 9 with complex brainstem malformation5Nov 24, 2020
Lissencephaly due to LIS1 mutation3Nov 24, 2020
Localized epidermolysis bullosa simplex1Nov 24, 2020
Loeys-Dietz syndrome 33Nov 24, 2020
Loeys-Dietz syndrome 41Nov 24, 2020
Loeys-Dietz syndrome 52Nov 24, 2020
Long QT syndrome 13Nov 24, 2020
Long QT syndrome 112Nov 24, 2020
Long QT syndrome 121Nov 24, 2020
Long QT syndrome 61Nov 24, 2020
Long face3Dec 8, 2017
Long fingers1Nov 12, 2016
Long palpebral fissure1Dec 8, 2017
Long philtrum4Dec 8, 2017
Loss of ability to walk3Nov 12, 2016
Loss of consciousness1Dec 8, 2017
Low anterior hairline1Nov 12, 2016
Low posterior hairline1Nov 12, 2016
Low-molecular-weight proteinuria1Dec 8, 2017
Low-output congestive heart failure1Dec 8, 2017
Low-set ears12Dec 8, 2017
Low-set, posteriorly rotated ears4Dec 8, 2017
Lower limb amyotrophy4Dec 8, 2017
Lower limb hyperreflexia1Nov 12, 2016
Lower limb muscle weakness8Dec 8, 2017
Lower limb pain2Dec 8, 2017
Lower limb undergrowth1Nov 12, 2016
Lumbar hyperlordosis3Dec 8, 2017
Lumbar scoliosis1Dec 8, 2017
Luscan-lumish syndrome4Nov 24, 2020
Lymphangiomyomatosis23Nov 24, 2020
Lymphoma, Non-Hodgkin, Familial1Nov 24, 2020
Lynch syndrome I1Nov 24, 2020
Lysosomal acid lipase deficiency1Nov 24, 2020
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 351Nov 24, 2020
MPDU1-CDG1Nov 24, 2020
MYH-associated polyposis1Nov 24, 2020
Macrocephalus22Dec 8, 2017
Macrocephaly at birth2Dec 8, 2017
Macrocephaly, acquired, with impaired intellectual development1Nov 24, 2020
Macrocephaly, dysmorphic facies, and psychomotor retardation1Nov 24, 2020
Macrodactyly of toe1Dec 8, 2017
Macroscopic hematuria1Dec 8, 2017
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss3Nov 24, 2020
Macrotia4Dec 8, 2017
Macular degeneration7Dec 8, 2017
Macular degeneration, early-onset6Nov 24, 2020
Macular dystrophy5Dec 8, 2017
Macular dystrophy, patterned, 21Nov 24, 2020
Malar flattening2Dec 8, 2017
Male infertility2Dec 8, 2017
Malignant hyperthermia1Nov 12, 2016
Malignant tumor of colon2Dec 8, 2017
Malignant tumor of esophagus2Nov 24, 2020
Malignant tumor of prostate3Nov 24, 2020
Malignant tumor of testis1Nov 24, 2020
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome4Nov 24, 2020
Mandibular prognathia1Nov 12, 2016
Mandibulofacial dysostosis-microcephaly syndrome3Nov 24, 2020
Maple syrup urine disease3Nov 24, 2020
Maple syrup urine disease, type 31Nov 24, 2020
Marfan lipodystrophy syndrome19Nov 24, 2020
Marfan syndrome1Nov 12, 2016
Marshall syndrome6Nov 24, 2020
Marshall-Smith syndrome3Nov 24, 2020
Mask-like facies1Dec 8, 2017
Mast syndrome1Nov 24, 2020
Maternal hypertension1Dec 8, 2017
Matthew-Wood syndrome2Nov 24, 2020
Maturity onset diabetes mellitus in young1Dec 8, 2017
Maturity-onset diabetes of the young type 81Nov 24, 2020
Maturity-onset diabetes of the young, type 101Nov 24, 2020
Maturity-onset diabetes of the young, type 31Nov 24, 2020
Meckel syndrome type 73Nov 24, 2020
Meckel syndrome type 81Nov 24, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Nov 24, 2020
Medullary thyroid carcinoma1Dec 8, 2017
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations3Nov 24, 2020
Megaconial type congenital muscular dystrophy1Nov 24, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 11Nov 24, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 2a3Nov 24, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 14Nov 24, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Nov 24, 2020
Megaloblastic anemia2Dec 8, 2017
Megalocornea1Dec 8, 2017
Melanoma4Dec 8, 2017
Melorheostosis1Nov 24, 2020
Memory impairment7Dec 8, 2017
Meningioma, familial13Nov 24, 2020
Menke-Hennekam syndrome 24Nov 24, 2020
Mental deterioration6Dec 8, 2017
Mental retardation 63, X-linked1Nov 24, 2020
Mental retardation and distinctive facial features with or without cardiac defects5Nov 24, 2020
Mental retardation with language impairment and with or without autistic features3Nov 24, 2020
Mental retardation, X-linked 15Nov 24, 2020
Mental retardation, X-linked 1023Nov 24, 2020
Mental retardation, X-linked 1041Nov 24, 2020
Mental retardation, X-linked 1051Nov 24, 2020
Mental retardation, X-linked 121Nov 24, 2020
Mental retardation, X-linked 192Nov 24, 2020
Mental retardation, X-linked 722Nov 24, 2020
Mental retardation, X-linked 992Nov 24, 2020
Mental retardation, X-linked, syndromic 333Nov 24, 2020
Mental retardation, X-linked, syndromic, Raymond type3Nov 24, 2020
Mental retardation, autosomal dominant 13Nov 24, 2020
Mental retardation, autosomal dominant 101Nov 24, 2020
Mental retardation, autosomal dominant 111Nov 24, 2020
Mental retardation, autosomal dominant 142Nov 24, 2020
Mental retardation, autosomal dominant 183Nov 24, 2020
Mental retardation, autosomal dominant 231Nov 24, 2020
Mental retardation, autosomal dominant 266Nov 24, 2020
Mental retardation, autosomal dominant 294Nov 24, 2020
Mental retardation, autosomal dominant 302Nov 24, 2020
Mental retardation, autosomal dominant 311Nov 24, 2020
Mental retardation, autosomal dominant 321Nov 24, 2020
Mental retardation, autosomal dominant 331Nov 24, 2020
Mental retardation, autosomal dominant 361Nov 24, 2020
Mental retardation, autosomal dominant 381Nov 24, 2020
Mental retardation, autosomal dominant 391Nov 24, 2020
Mental retardation, autosomal dominant 402Nov 24, 2020
Mental retardation, autosomal dominant 435Nov 24, 2020
Mental retardation, autosomal dominant 56Nov 24, 2020
Mental retardation, autosomal dominant 581Nov 24, 2020
Mental retardation, autosomal dominant 63Nov 24, 2020
Mental retardation, autosomal dominant 73Nov 24, 2020
Mental retardation, autosomal recessive 151Nov 24, 2020
Mental retardation, autosomal recessive 32Nov 24, 2020
Mental retardation, autosomal recessive 375Nov 24, 2020
Mental retardation, autosomal recessive 553Nov 24, 2020
Mental retardation, autosomal recessive 661Nov 24, 2020
Mental retardation, autosomal recessive 71Nov 24, 2020
Mental retardation, fra12a type1Nov 24, 2020
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Nov 24, 2020
Mental retardation, with or without seizures, ARX-related, X-linked1Nov 24, 2020
Meretoja syndrome1Nov 24, 2020
Merosin deficient congenital muscular dystrophy4Nov 24, 2020
Mesoaxial hand polydactyly1Nov 12, 2016
Mesomelic/rhizomelic limb shortening1Dec 8, 2017
Metachromatic leukodystrophy6Nov 24, 2020
Metachromatic leukodystrophy variant3Dec 8, 2017
Metaphyseal chondrodysplasia1Dec 8, 2017
Metaphyseal chondrodysplasia, Schmid type1Nov 24, 2020
Metaphyseal chondrodysplasia, Spahr type3Nov 24, 2020
Methemoglobinemia1Dec 8, 2017
Methylcobalamin deficiency type cblG2Nov 24, 2020
Microalbuminuria1Dec 8, 2017
Microcephalic osteodysplastic primordial dwarfism type II1Nov 24, 2020
Microcephaly49Apr 10, 2018
Microcephaly with mental retardation and digital anomalies2Nov 24, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2Nov 24, 2020
Microcephaly, normal intelligence and immunodeficiency2Nov 24, 2020
Microcephaly, postnatal progressive, with seizures and brain atrophy1Nov 24, 2020
Microcephaly, short stature, and polymicrogyria with or without seizures2Nov 24, 2020
Microcytic anemia1Dec 8, 2017
Micrognathia8Dec 8, 2017
Microphthalmia1Dec 8, 2017
Microphthalmia, isolated 61Nov 24, 2020
Microphthalmia/coloboma and skeletal dysplasia syndrome1Nov 24, 2020
Microprolactinoma1Apr 8, 2020
Microretrognathia2Dec 8, 2017
Microscopic hematuria4Apr 8, 2020
Middle cerebral artery stenosis1Dec 8, 2017
Midface retrusion1Dec 8, 2017
Migraine13Dec 8, 2017
Migraine with aura4Dec 8, 2017
Mild fetal ventriculomegaly2Dec 8, 2017
Mild global developmental delay2Dec 8, 2017
Mild proteinuria2Dec 8, 2017
Mildly elevated creatine phosphokinase2Dec 8, 2017
Misalignment of teeth1Nov 12, 2016
Missing ribs2Dec 8, 2017
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Nov 24, 2020
Mitochondrial DNA depletion syndrome 4B, MNGIE type3Nov 24, 2020
Mitochondrial DNA-depletion syndrome 3, hepatocerebral2Nov 24, 2020
Mitochondrial complex 1 deficiency, nuclear type 161Nov 24, 2020
Mitochondrial complex 1 deficiency, nuclear type 171Nov 24, 2020
Mitochondrial complex 1 deficiency, nuclear type 192Nov 24, 2020
Mitochondrial complex 1 deficiency, nuclear type 211Nov 24, 2020
Mitochondrial complex 1 deficiency, nuclear type 291Nov 24, 2020
Mitochondrial complex 1 deficiency, nuclear type 41Nov 24, 2020
Mitochondrial complex 1 deficiency, nuclear type 51Nov 24, 2020
Mitochondrial complex IV deficiency1Nov 24, 2020
Mitochondrial myopathy1Dec 8, 2017
Mitochondrial phosphate carrier deficiency1Nov 24, 2020
Mitochondrial respiratory chain defects1Dec 8, 2017
Mitochondrial trifunctional protein deficiency2Nov 24, 2020
Mitral regurgitation3Nov 12, 2016
Mitral valve prolapse12Apr 8, 2020
Mixed demyelinating and axonal polyneuropathy1Dec 8, 2017
Moderate sensorineural hearing impairment2Dec 8, 2017
Molar tooth sign on MRI2Nov 12, 2016
Molybdenum cofactor deficiency, complementation group B1Nov 24, 2020
Monochromacy2Nov 12, 2016
Mood changes1Nov 12, 2016
Morphological abnormality of the central nervous system1Dec 8, 2017
Motor delay24Dec 8, 2017
Motor polyneuropathy2Dec 8, 2017
Movement disorder2Dec 8, 2017
Mowat-Wilson syndrome2Nov 24, 2020
Moyamoya disease 51Nov 24, 2020
Mucopolysaccharidosis type 72Nov 24, 2020
Mucopolysaccharidosis, MPS-I-H/S1Nov 24, 2020
Mucopolysaccharidosis, MPS-III-A1Nov 24, 2020
Mucopolysaccharidosis, MPS-IV-A1Nov 24, 2020
Mucopolysacchariduria2Dec 8, 2017
Mulibrey nanism syndrome1Nov 24, 2020
Multicystic kidney dysplasia5Dec 8, 2017
Multiple acyl-CoA dehydrogenase deficiency1Nov 24, 2020
Multiple cafe-au-lait spots18Dec 8, 2017
Multiple endocrine neoplasia, type 13Nov 24, 2020
Multiple endocrine neoplasia, type 2b5Nov 24, 2020
Multiple epiphyseal dysplasia (disease)1Nov 12, 2016
Multiple exostoses type 21Nov 24, 2020
Multiple gastrointestinal atresias1Nov 24, 2020
Multiple joint contractures1Dec 8, 2017
Multiple prenatal fractures1Nov 12, 2016
Multiple renal cysts4Dec 8, 2017
Multiple small medullary renal cysts1Dec 8, 2017
Multiple sulfatase deficiency1Nov 24, 2020
Muscle AMP deaminase deficiency4Nov 24, 2020
Muscle cramps5Dec 8, 2017
Muscle fiber inclusion bodies1Dec 8, 2017
Muscle weakness27Dec 8, 2017
Muscular dystrophy11Dec 8, 2017
Muscular dystrophy, limb-girdle, autosomal dominant 47Nov 24, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14Nov 24, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 92Nov 24, 2020
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 142Nov 24, 2020
Muscular hypotonia18Apr 8, 2020
Muscular hypotonia of the trunk1Dec 8, 2017
Muscular ventricular septal defect1Nov 12, 2016
Myalgia9Dec 8, 2017
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency2Nov 24, 2020
Myasthenic syndrome, congenital, 151Nov 24, 2020
Myasthenic syndrome, congenital, 2a, slow-channel2Nov 24, 2020
Myasthenic syndrome, congenital, 3a, slow-channel1Nov 24, 2020
Myasthenic syndrome, congenital, 4b, fast-channel3Nov 24, 2020
Myasthenic syndrome, congenital, 7, presynaptic1Nov 24, 2020
Myasthenic syndrome, congenital, 81Nov 24, 2020
Mycobacterial and viral infections, susceptibility to, autosomal recessive1Nov 24, 2020
Myelodysplastic syndrome2Nov 24, 2020
Myocardial infarction1Dec 8, 2017
Myocarditis2Dec 8, 2017
Myoclonic dystonia1Nov 24, 2020
Myoclonus4Dec 8, 2017
Myoclonus, intractable, neonatal3Nov 24, 2020
Myofibrillar myopathy1Nov 12, 2016
Myofibrillar myopathy 12Nov 24, 2020
Myopathic facies3Dec 8, 2017
Myopathy33Dec 8, 2017
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset1Nov 24, 2020
Myopathy, centronuclear, 16Nov 24, 2020
Myopathy, centronuclear, 53Nov 24, 2020
Myopathy, distal, 11Sep 27, 2018
Myopathy, distal, with anterior tibial onset3Nov 24, 2020
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay1Nov 24, 2020
Myopathy, scapulohumeroperoneal3Nov 24, 2020
Myopia (disease)23Apr 8, 2020
Myopia 21, autosomal dominant2Nov 24, 2020
Myosclerosis, autosomal recessive1Nov 24, 2020
Myotonia9Dec 8, 2017
Myotonia congenita1Nov 12, 2016
Myotonia of the upper limb1Dec 8, 2017
Myxomatous mitral valve degeneration1Dec 8, 2017
Nail dysplasia1Nov 12, 2016
Nail dystrophy5Dec 8, 2017
Narcolepsy 71Nov 24, 2020
Narrow chest12Dec 8, 2017
Narrow forehead3Dec 8, 2017
Narrow mouth1Dec 8, 2017
Narrow nasal bridge1Nov 12, 2016
Narrow nose1Dec 8, 2017
Narrow palate1Dec 8, 2017
Nasal speech1Dec 8, 2017
Natural killer cell and glucocorticoid deficiency with DNA repair defect1Nov 24, 2020
Naxos disease5Nov 24, 2020
Nemaline myopathy 22Nov 24, 2020
Nemaline myopathy 62Nov 24, 2020
Nemaline myopathy 91Nov 24, 2020
Neonatal asphyxia1Dec 8, 2017
Neonatal breathing dysregulation2Dec 8, 2017
Neonatal hypoglycemia2Nov 12, 2016
Neonatal hypotonia12Dec 8, 2017
Neonatal onset1Nov 12, 2016
Neonatal pseudo-hydrocephalic progeroid syndrome2Nov 24, 2020
Neonatal respiratory distress3Dec 8, 2017
Neonatal short-limb short stature1Dec 8, 2017
Neoplasm of ovary4Nov 12, 2016
Nephritis1Dec 8, 2017
Nephrolithiasis1Dec 8, 2017
Nephronophthisis 11Nov 24, 2020
Nephronophthisis 151Nov 24, 2020
Nephropathy3Dec 8, 2017
Nephrotic syndrome, type 71Nov 24, 2020
Netherton syndrome2Nov 24, 2020
Neurodegeneration6Nov 12, 2016
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Nov 24, 2020
Neurodegeneration with brain iron accumulation 52Nov 24, 2020
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity3Nov 24, 2020
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies1Nov 24, 2020
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies3Nov 24, 2020
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination3Nov 24, 2020
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart5Nov 24, 2020
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive3Nov 24, 2020
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA3Nov 24, 2020
Neurodevelopmental disorder with severe motor impairment and absent language1Nov 24, 2020
Neurofibromas7Dec 8, 2017
Neurofibromatosis, type 136Nov 24, 2020
Neurological speech impairment2Nov 12, 2016
Neuromuscular dysphagia1Dec 8, 2017
Neuronal ceroid lipofuscinosis 74Nov 24, 2020
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1Nov 24, 2020
Neutral lipid storage myopathy1Nov 24, 2020
Neutropenia3Nov 12, 2016
Neutropenia, severe congenital, 7, autosomal recessive1Nov 24, 2020
Nicolaides-Baraitser syndrome2Nov 24, 2020
Niemann-Pick disease type C15Nov 24, 2020
Niemann-Pick disease, type C21Nov 24, 2020
Night blindness, congenital stationary, type 1g2Nov 24, 2020
Non-ketotic hyperglycinemia5Nov 24, 2020
Non-syndromic syndactyly1Nov 12, 2016
Noncompaction cardiomyopathy5Dec 8, 2017
Nonmedullary thyroid carcinoma 11Nov 24, 2020
Noonan syndrome 91Nov 24, 2020
Noonan syndrome-like disorder with loose anagen hair 11Nov 24, 2020
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia5Nov 24, 2020
Normocytic anemia1Dec 8, 2017
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11Nov 24, 2020
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 22Nov 24, 2020
Numerous pigmented freckles2Dec 8, 2017
Nyctalopia3Dec 8, 2017
Nystagmus27Dec 8, 2017
Nystagmus 6, congenital, X-linked1Nov 24, 2020
Obesity12Nov 24, 2020
Occipital encephalocele2Dec 8, 2017
Ocular albinism6Dec 8, 2017
Oculofaciocardiodental syndrome4Nov 24, 2020
Oculogyric crisis2Dec 8, 2017
Oculomotor apraxia2Dec 8, 2017
Odonto-onycho-dermal dysplasia1Nov 24, 2020
Odontotrichomelic syndrome1Nov 24, 2020
Oligodontia-colorectal cancer syndrome1Nov 24, 2020
Oligohydramnios8Dec 8, 2017
Oligospermia1Nov 12, 2016
Opacification of the corneal stroma1Nov 12, 2016
Open mouth2Dec 8, 2017
Opsismodysplasia1Nov 24, 2020
Optic atrophy4Dec 8, 2017
Optic atrophy 121Nov 24, 2020
Optic atrophy 94Nov 24, 2020
Optic disc drusen2Dec 8, 2017
Optic nerve glioma3Dec 8, 2017
Optic nerve hypoplasia1Nov 12, 2016
Optic neuritis1Dec 8, 2017
Optic neuropathy2Dec 8, 2017
Oral cavity telangiectasia2Dec 8, 2017
Oral cleft1Dec 8, 2017
Ornithine aminotransferase deficiency1Nov 24, 2020
Ornithine carbamoyltransferase deficiency4Nov 24, 2020
Orofacial cleft 111Nov 24, 2020
Orofacial-digital syndrome IV1Nov 24, 2020
Orofaciodigital syndrome type 62Nov 24, 2020
Orofaciodigital syndrome xiv2Nov 24, 2020
Oromandibular dystonia1Dec 8, 2017
Osteoarthritis of distal interphalangeal joint2Nov 24, 2020
Osteocraniostenosis1Nov 24, 2020
Osteogenesis imperfecta type 71Nov 24, 2020
Osteogenesis imperfecta with normal sclerae, dominant form17Nov 24, 2020
Osteogenesis imperfecta, type xiv1Nov 24, 2020
Osteogenesis imperfecta, type xvi1Nov 24, 2020
Osteomyelitis leading to amputation due to slow healing fractures1Dec 8, 2017
Osteopathia striata with cranial sclerosis1Nov 24, 2020
Osteopenia3Dec 8, 2017
Osteopetrosis with renal tubular acidosis1Nov 24, 2020
Osteoporosis2Dec 8, 2017
Otofaciocervical syndrome 13Nov 24, 2020
Overgrowth2Nov 12, 2016
Overlapping fingers1Dec 8, 2017
Pachygyria1Dec 8, 2017
Pachyonychia congenita 31Nov 24, 2020
Pain8Dec 8, 2017
Pain insensitivity2Nov 12, 2016
Palate telangiectasia1Dec 8, 2017
Pallister-Hall syndrome2Nov 24, 2020
Palmoplantar blistering7Dec 8, 2017
Palmoplantar hyperhidrosis1Dec 8, 2017
Palmoplantar keratoderma3Dec 8, 2017
Palmoplantar keratoderma, nonepidermolytic, focal 21Nov 24, 2020
Palpitations2Dec 8, 2017
Pancreatic cysts4Dec 8, 2017
Pancreatic insulin-producing neuroendocrine tumor1Dec 8, 2017
Pancreatitis2Dec 8, 2017
Panhypopituitarism, X-linked1Nov 24, 2020
Papule1Nov 12, 2016
Paragangliomas 44Nov 24, 2020
Paraparesis1Nov 12, 2016
Parathyroid adenoma3Dec 8, 2017
Paresthesia4Dec 8, 2017
Parkinson disease 111Nov 24, 2020
Parkinson disease 6, autosomal recessive early-onset1Nov 24, 2020
Parkinson disease 8, autosomal dominant7Nov 24, 2020
Parkinson disease, late-onset1Nov 24, 2020
Parkinsonism14Dec 8, 2017
Parkinsonism-dystonia, infantile, 11Nov 24, 2020
Paroxysmal dyskinesia1Nov 12, 2016
Paroxysmal dystonia3Dec 8, 2017
Paroxysmal nonkinesigenic dyskinesia 13Nov 24, 2020
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy5Nov 24, 2020
Partial agenesis of the corpus callosum1Nov 12, 2016
Patellar dislocation1Dec 8, 2017
Patent foramen ovale1Dec 8, 2017
Pathologic fracture1Dec 8, 2017
Pear-shaped nose1Nov 12, 2016
Pectus carinatum2Apr 8, 2020
Pectus excavatum4Nov 12, 2016
Pelger-Huët anomaly2Nov 24, 2020
Pelizaeus-Merzbacher disease3Nov 24, 2020
Pelvic girdle muscle weakness2Nov 12, 2016
Pena-Shokeir syndrome type I2Nov 24, 2020
Penetrating foot ulcers1Dec 8, 2017
Pericardial effusion1Nov 12, 2016
Periorbital fullness1Dec 8, 2017
Periorbital hyperpigmentation1Nov 12, 2016
Peripheral Schwannoma1Dec 8, 2017
Peripheral axonal neuropathy6Dec 8, 2017
Peripheral demyelination1Nov 12, 2016
Peripheral hypomyelination2Dec 8, 2017
Peripheral neuropathy6Nov 12, 2016
Peripheral neuropathy, myopathy, hoarseness, and hearing loss8Nov 24, 2020
Peripheral pulmonary artery stenosis1Nov 12, 2016
Peripheral visual field loss3Dec 8, 2017
Periportal fibrosis2Nov 12, 2016
Peritonitis2Dec 8, 2017
Periventricular cysts1Nov 12, 2016
Periventricular gray matter heterotopia1Dec 8, 2017
Periventricular leukomalacia3Dec 8, 2017
Periventricular nodular heterotopia 71Nov 24, 2020
Periventricular nodular heterotopia 92Nov 24, 2020
Permanent neonatal diabetes mellitus2Nov 24, 2020
Peroneal muscle atrophy2Dec 8, 2017
Peroxisome biogenesis disorder 1B1Nov 24, 2020
Peroxisome biogenesis disorder 2A (Zellweger)1Nov 24, 2020
Peroxisome biogenesis disorder 4a (zellweger)4Nov 24, 2020
Peroxisome biogenesis disorder 5a (zellweger)1Nov 24, 2020
Peroxisome biogenesis disorder 6A1Nov 24, 2020
Peroxisome biogenesis disorder 7B1Nov 24, 2020
Peroxisome biogenesis disorder 9B2Nov 24, 2020
Perrault syndrome 11Nov 24, 2020
Perrault syndrome 41Nov 24, 2020
Persistence of hemoglobin F1Nov 12, 2016
Persistent fetal circulation syndrome1Nov 24, 2020
Persistent hyperplastic primary vitreous1Nov 12, 2016
Pes cavus8Dec 8, 2017
Pes planus10Apr 8, 2020
Pes valgus5Apr 8, 2020
Peters plus syndrome1Nov 24, 2020
Phenylketonuria6Nov 24, 2020
Pheochromocytoma2Nov 24, 2020
Phonophobia1Dec 8, 2017
Phosphate transport defect1Nov 24, 2020
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1Nov 24, 2020
Phosphoglycerate dehydrogenase deficiency2Nov 24, 2020
Phosphoribosylpyrophosphate synthetase superactivity1Nov 24, 2020
Photophobia1Dec 8, 2017
Pigmentary retinal dystrophy11Nov 24, 2020
Pigmentary retinopathy5Dec 8, 2017
Pigmented nodular adrenocortical disease, primary, 22Nov 24, 2020
Pigmented paravenous chorioretinal atrophy9Nov 24, 2020
Pilarowski-Bjornsson syndrome1Nov 24, 2020
Pitt-Hopkins syndrome8Nov 24, 2020
Pitt-Hopkins-like syndrome 11Nov 24, 2020
Pitt-Hopkins-like syndrome 24Nov 24, 2020
Pituitary adenoma 5, multiple types4Nov 24, 2020
Pituitary hormone deficiency, combined 21Nov 24, 2020
Pityriasis rubra pilaris1Nov 24, 2020
Plagiocephaly1Apr 8, 2020
Plantar crease between first and second toes1Dec 8, 2017
Plasminogen deficiency, type I1Nov 24, 2020
Platelet-type bleeding disorder 162Nov 24, 2020
Pleural effusion1Nov 12, 2016
Plexiform neurofibroma1Nov 12, 2016
Pneumothorax1Dec 8, 2017
Pointed chin4Dec 8, 2017
Poliosis1Nov 12, 2016
Polycystic kidney disease 29Nov 24, 2020
Polycystic kidney disease 44Nov 24, 2020
Polycystic kidney disease, adult type27Nov 24, 2020
Polycystic kidney dysplasia33Dec 8, 2017
Polycystic liver disease 14Dec 8, 2017
Polycystic liver disease 21Nov 24, 2020
Polydactyly4Dec 8, 2017
Polyglandular autoimmune syndrome, type 11Nov 24, 2020
Polyglucosan body myopathy 1 with or without immunodeficiency1Nov 24, 2020
Polyglucosan body myopathy 22Nov 24, 2020
Polyhydramnios2Dec 8, 2017
Polymicrogyria5Nov 12, 2016
Polymicrogyria with or without vascular-type ehlers-danlos syndrome5Nov 24, 2020
Polymorphous corneal dystrophy1Nov 12, 2016
Polyneuropathy3Nov 12, 2016
Pontocerebellar hypoplasia type 2D1Nov 24, 2020
Pontocerebellar hypoplasia type 53Nov 24, 2020
Pontocerebellar hypoplasia type 61Nov 24, 2020
Pontocerebellar hypoplasia, type 111Nov 24, 2020
Pontocerebellar hypoplasia, type 71Nov 24, 2020
Pontoneocerebellar hypoplasia1May 21, 2020
Poor coordination1Nov 12, 2016
Poor eye contact1Nov 12, 2016
Poor fine motor coordination1Nov 12, 2016
Poor motor coordination1Dec 8, 2017
Poor speech6Dec 8, 2017
Poor wound healing3Dec 8, 2017
Porencephaly 26Nov 24, 2020
Poretti-Boltshauser syndrome2Nov 24, 2020
Porphyrinuria2Nov 12, 2016
Positive Romberg sign2Dec 8, 2017
Postaxial foot polydactyly2Nov 12, 2016
Postaxial hand polydactyly5Dec 8, 2017
Postaxial polydactyly type A14Dec 8, 2017
Postnatal growth retardation1Nov 12, 2016
Postnatal microcephaly4Dec 8, 2017
Postural instability2Nov 12, 2016
Potocki-Lupski syndrome2Nov 24, 2020
Prader-Willi syndrome12Nov 24, 2020
Preauricular skin tag1Nov 12, 2016
Precocious puberty, central, 11Nov 24, 2020
Preeclampsia1Nov 12, 2016
Pregnancy loss, recurrent, susceptibility to, 21Nov 24, 2020
Prelingual sensorineural hearing impairment1Nov 12, 2016
Premature birth7Dec 8, 2017
Premature ovarian failure 2b1Nov 24, 2020
Premature ovarian failure 31Nov 24, 2020
Premature ovarian insufficiency3Dec 8, 2017
Primary aldosteronism, seizures, and neurologic abnormalities1Nov 24, 2020
Primary autosomal recessive microcephaly 11Nov 24, 2020
Primary autosomal recessive microcephaly 131Nov 24, 2020
Primary autosomal recessive microcephaly 21Nov 24, 2020
Primary autosomal recessive microcephaly 33Nov 24, 2020
Primary dilated cardiomyopathy14Dec 8, 2017
Primary hyperparathyroidism1Dec 8, 2017
Primary hypertrophic osteoarthropathy, autosomal recessive 21Nov 24, 2020
Primary open angle glaucoma2Nov 24, 2020
Profound global developmental delay2Dec 8, 2017
Progressive bulbar palsy of childhood1Nov 24, 2020
Progressive distal muscle weakness4Nov 12, 2016
Progressive distal muscular atrophy2Dec 8, 2017
Progressive external ophthalmoplegia1Dec 8, 2017
Progressive familial heart block type IB3Nov 24, 2020
Progressive gait ataxia1Dec 8, 2017
Progressive hearing impairment1Nov 12, 2016
Progressive inability to walk2Dec 8, 2017
Progressive microcephaly5Dec 8, 2017
Progressive muscle weakness6Dec 8, 2017
Progressive neurodegenerative disease1Nov 12, 2016
Progressive neurologic deterioration2Nov 12, 2016
Progressive pes cavus1Dec 8, 2017
Progressive proximal muscle weakness5Dec 8, 2017
Progressive ptosis2Dec 8, 2017
Progressive sensorineural hearing impairment6Dec 8, 2017
Progressive spinal muscular atrophy2Dec 8, 2017
Progressive visual loss5Dec 8, 2017
Prolactin-producing pituitary gland adenoma1Nov 12, 2016
Prolonged QT interval1Dec 8, 2017
Prolonged QTc interval1Dec 8, 2017
Prolonged bleeding time3Dec 8, 2017
Prominent fingertip pads1Dec 8, 2017
Prominent forehead2Dec 8, 2017
Prominent metopic ridge