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Diagnostic Laboratory, Department of Genetics (University Medical Center Groningen), DL-UMCG

General information

Diagnostic Laboratory, Department of Genetics, DL-UMCG
University Medical Center Groningen
Groningen
Netherlands

Organization ID: 506382

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1898

Gene

GeneSubmissionsLast Updated
AARS12Apr 4, 2018
ABCD13Apr 4, 2018
ABHD121Apr 4, 2018
ACBD61Apr 4, 2018
ACTN224Apr 4, 2018
ACTN41Apr 4, 2018
ACVR2B3Apr 4, 2018
ACVRL12Apr 4, 2018
ADAMTS101Apr 4, 2018
ADAMTS1710Apr 4, 2018
ADAMTS210Apr 4, 2018
ADAMTSL29Apr 4, 2018
ADAMTSL42Apr 4, 2018
AGA3Apr 4, 2018
AGL1Apr 4, 2018
AGTR21Apr 4, 2018
AHI13Apr 4, 2018
AICDA2Apr 4, 2018
AKAP911Apr 4, 2018
ALAD1Apr 4, 2018
ALDH18A12Apr 4, 2018
ALDH3A21Apr 4, 2018
ALDH5A11Apr 4, 2018
ALDH7A11Apr 4, 2018
ALG62Apr 4, 2018
ALG82Apr 4, 2018
ALK11Apr 4, 2018
ALMS13Apr 4, 2018
AMH2Apr 4, 2018
AMT2Apr 4, 2018
ANK16Apr 4, 2018
ANK27Apr 4, 2018
ANKRD110Apr 4, 2018
ANKRD111Apr 4, 2018
ANO105Apr 4, 2018
ANO31Apr 4, 2018
AP4B11Apr 4, 2018
AP4B1-AS11Apr 4, 2018
AP4E13Apr 4, 2018
APOC31Apr 4, 2018
APTX2Apr 4, 2018
AQP21Apr 4, 2018
ARFGEF21Apr 4, 2018
ARG12Apr 4, 2018
ARHGEF105Apr 4, 2018
ARHGEF61Apr 4, 2018
ARID1A2Apr 4, 2018
ARL13B1Apr 4, 2018
ARSL1Apr 4, 2018
ASPM15Apr 4, 2018
ASS11Apr 4, 2018
ATCAY1Apr 4, 2018
ATM11Apr 4, 2018
ATP13A210Apr 4, 2018
ATP2A12Apr 4, 2018
ATP2B37Apr 4, 2018
ATP7B15Apr 4, 2018
AXDND11Apr 4, 2018
B4GALT72Apr 4, 2018
B9D11Apr 4, 2018
B9D21Apr 4, 2018
BBS13Apr 4, 2018
BBS125Apr 4, 2018
BBS21Apr 4, 2018
BBS44Apr 4, 2018
BBS72Apr 4, 2018
BBS93Apr 4, 2018
BCKDHA3Apr 4, 2018
BCOR3Apr 4, 2018
BIVM-ERCC54Apr 4, 2018
BLM1Apr 4, 2018
BRCA1102Apr 4, 2018
BRCA2141Apr 4, 2018
BRWD31Apr 4, 2018
BTD1Apr 4, 2018
C11orf653Apr 4, 2018
C19orf122Apr 4, 2018
C9orf722Apr 4, 2018
CACNA1D3Apr 4, 2018
CACNA1H7Apr 4, 2018
CACNB22Apr 4, 2018
CALR38Apr 4, 2018
CASD11Apr 4, 2018
CASQ24Apr 4, 2018
CBL1Apr 4, 2018
CBS2Apr 4, 2018
CC2D1A1Apr 4, 2018
CCBE11Apr 4, 2018
CCDC392Apr 4, 2018
CCDC4010Apr 4, 2018
CCDC88C1Apr 4, 2018
CCT55Apr 4, 2018
CD2AP1Apr 4, 2018
CD3D1Apr 4, 2018
CD3E2Apr 4, 2018
CD401Apr 4, 2018
CD40LG2Apr 4, 2018
CDK5RAP23Apr 4, 2018
CDKL54Apr 4, 2018
CDKN1B2Apr 4, 2018
CDT12Apr 4, 2018
CEP1351Apr 4, 2018
CERKL2Apr 4, 2018
CETP2Apr 4, 2018
CHRNA21Apr 4, 2018
CHRNA42Apr 4, 2018
CHRNB21Apr 4, 2018
CHROMR1Apr 4, 2018
CHST31Apr 4, 2018
CLCN21Apr 4, 2018
CLN53Apr 4, 2018
CNGB11Apr 4, 2018
COCH1Apr 4, 2018
COL18A16Apr 4, 2018
COQ23Apr 4, 2018
COQ8A6Apr 4, 2018
CP5Apr 4, 2018
CPLANE14Apr 4, 2018
CPOX2Apr 4, 2018
CPS14Apr 4, 2018
CPT1A1Apr 4, 2018
CRPPA2Apr 4, 2018
CRTAP4Apr 4, 2018
CTDP13Apr 4, 2018
CTSD2Apr 4, 2018
CUL4B1Apr 4, 2018
CYP24A11Apr 4, 2018
CYP27A12Apr 4, 2018
CYP2B61Apr 4, 2018
CYP4V21Apr 4, 2018
DAG11Apr 4, 2018
DCAF174Apr 4, 2018
DDC3Apr 4, 2018
DGUOK1Apr 4, 2018
DGUOK-AS11Apr 4, 2018
DHCR73Apr 4, 2018
DHFR1Apr 4, 2018
DIAPH11Apr 4, 2018
DIAPH31Apr 4, 2018
DKC11Apr 4, 2018
DLAT2Apr 4, 2018
DLD2Apr 4, 2018
DLG31Apr 4, 2018
DMPK1Apr 4, 2018
DNAAF12Apr 4, 2018
DNAAF111Apr 4, 2018
DNAAF25Apr 4, 2018
DNAAF35Apr 4, 2018
DNAI11Apr 4, 2018
DNAI24Apr 4, 2018
DNMT3B1Apr 4, 2018
DOCK612Apr 4, 2018
DPAGT11Apr 4, 2018
DPM22Apr 4, 2018
DPYD2Apr 4, 2018
DSC215Apr 4, 2018
DSCAS1Apr 4, 2018
DST7Apr 4, 2018
DTNA8Apr 4, 2018
DUOX25Apr 4, 2018
DUOXA25Apr 4, 2018
EFEMP21Apr 4, 2018
EFTUD23Apr 4, 2018
EIF2AK34Apr 4, 2018
EIF4G13Apr 4, 2018
ELP13Apr 4, 2018
EMD3Apr 4, 2018
ENG3Apr 4, 2018
EPM2A2Apr 4, 2018
ERCC54Apr 4, 2018
ESR22Apr 4, 2018
EXOSC31Apr 4, 2018
EYS8Apr 4, 2018
FA2H1Apr 4, 2018
FAH3Apr 4, 2018
FAM161A1Apr 4, 2018
FAM83H2Apr 4, 2018
FANCD23Apr 4, 2018
FBN24Apr 4, 2018
FBXL33Apr 4, 2018
FBXO30-DT2Apr 4, 2018
FBXO76Apr 4, 2018
FECH2Apr 4, 2018
FERMT31Apr 4, 2018
FGD12Apr 4, 2018
FGD42Apr 4, 2018
FLVCR14Apr 4, 2018
FOLR12Apr 4, 2018
FOXE12Apr 4, 2018
FOXG12Apr 4, 2018
FRAS127Apr 4, 2018
FREM23Apr 4, 2018
FXN1Apr 4, 2018
GAA21Apr 4, 2018
GABRD1Apr 4, 2018
GALC10Apr 4, 2018
GALNS3Apr 4, 2018
GALT1Apr 4, 2018
GAMT1Apr 4, 2018
GATAD12Apr 4, 2018
GATM3Apr 4, 2018
GCDH4Apr 4, 2018
GIGYF25Apr 4, 2018
GLA4Apr 4, 2018
GLDC5Apr 4, 2018
GLI21Apr 4, 2018
GLRA11Apr 4, 2018
GNS2Apr 4, 2018
GOSR22Apr 4, 2018
GPHN2Apr 4, 2018
GRIA31Apr 4, 2018
GRIN2A3Apr 4, 2018
GRIN2B4Apr 4, 2018
GRIP15Apr 4, 2018
GRM15Apr 4, 2018
GUSB1Apr 4, 2018
HARS11Apr 4, 2018
HCFC11Apr 4, 2018
HDAC43Apr 4, 2018
HERC22Apr 4, 2018
HEXA3Apr 4, 2018
HEXB1Apr 4, 2018
HGSNAT1Apr 4, 2018
HMBS3Apr 4, 2018
HSPB32Apr 4, 2018
IDS1Apr 4, 2018
IFITM51Apr 4, 2018
IFT1221Apr 4, 2018
IFT1406Apr 4, 2018
IGHMBP28Apr 4, 2018
IGSF13Apr 4, 2018
IL10RA1Apr 4, 2018
IL12RB12Apr 4, 2018
IL17RA1Apr 4, 2018
INVS2Apr 4, 2018
IQSEC22Apr 4, 2018
ITGA31Apr 4, 2018
IVD1Apr 4, 2018
IYD1Apr 4, 2018
JAM32Apr 4, 2018
JPH212Apr 4, 2018
KCNA11Apr 4, 2018
KCNA51Apr 4, 2018
KCNC33Apr 4, 2018
KCNMA11Apr 4, 2018
KCNMA1-AS11Apr 4, 2018
KCNQ31Apr 4, 2018
KCNQ42Apr 4, 2018
KDM6A1Apr 4, 2018
KDR1Apr 4, 2018
KIFBP2Apr 4, 2018
KMT2D1Apr 4, 2018
KRT6B1Apr 4, 2018
LAMA212Apr 4, 2018
LAMA438Apr 4, 2018
LAMA4-AS12Apr 4, 2018
LAMC315Apr 4, 2018
LAMP27Apr 4, 2018
LDLR25Apr 4, 2018
LDLR-AS11Apr 4, 2018
LDLRAP11Apr 4, 2018
LEPR3Apr 4, 2018
LHB4Apr 4, 2018
LHX41Apr 4, 2018
LHX4-AS11Apr 4, 2018
LINC006303Apr 4, 2018
LIPA1Apr 4, 2018
LITAF1Apr 4, 2018
LMBRD11Apr 4, 2018
LOC1005060711Apr 4, 2018
LOC1019278706Apr 4, 2018
LOC1019283711Apr 4, 2018
LOC1027235661Apr 4, 2018
LOC1053710462Apr 4, 2018
LOC1053715665Apr 4, 2018
LOC1053722734Apr 4, 2018
LOC1060501021Apr 4, 2018
LOC1073033383Apr 4, 2018
LOC1086639961Apr 4, 2018
LOC1129975401Apr 4, 2018
LOC1148278501Apr 4, 2018
LOXHD11Apr 4, 2018
LRP23Apr 4, 2018
LRRC37A22Apr 4, 2018
LRSAM14Apr 4, 2018
LTBP45Apr 4, 2018
MAF1Apr 4, 2018
MAN2B13Apr 4, 2018
MAP2K22Apr 4, 2018
MAP3K16Apr 4, 2018
MC4R2Apr 4, 2018
MCPH19Apr 4, 2018
MCPH1-AS15Apr 4, 2018
MED175Apr 4, 2018
MED232Apr 4, 2018
MGAT21Apr 4, 2018
MIB15Apr 4, 2018
MIR68861Apr 4, 2018
MLH111Apr 4, 2018
MLYCD3Apr 4, 2018
MMAA1Apr 4, 2018
MMAB3Apr 4, 2018
MMADHC1Apr 4, 2018
MMUT5Apr 4, 2018
MOCS11Apr 4, 2018
MPI4Apr 4, 2018
MSH29Apr 4, 2018
MSH31Apr 4, 2018
MSH619Apr 4, 2018
MTM11Apr 4, 2018
MTMR21Apr 4, 2018
MTPAP2Apr 4, 2018
MTTP7Apr 4, 2018
MVK2Apr 4, 2018
MYBPC353Apr 4, 2018
MYH113Apr 4, 2018
MYH24Apr 4, 2018
MYHAS4Apr 4, 2018
MYL26Apr 4, 2018
MYL32Apr 4, 2018
MYLK6Apr 4, 2018
MYLK23Apr 4, 2018
MYO15A5Apr 4, 2018
MYO5B4Apr 4, 2018
MYOZ25Apr 4, 2018
MYPN22Apr 4, 2018
NAA101Apr 4, 2018
NAGLU6Apr 4, 2018
NAGS2Apr 4, 2018
NCR12Apr 4, 2018
NDE13Apr 4, 2018
NDRG11Apr 4, 2018
NDUFS11Apr 4, 2018
NEB1Apr 4, 2018
NECTIN11Apr 4, 2018
NEK11Apr 4, 2018
NFKBIA1Apr 4, 2018
NGF1Apr 4, 2018
NGF-AS11Apr 4, 2018
NHLRC12Apr 4, 2018
NIPA11Apr 4, 2018
NIPBL1Apr 4, 2018
NLRP121Apr 4, 2018
NLRP74Apr 4, 2018
NNT1Oct 13, 2015
NOTCH111Apr 4, 2018
NPC119Apr 4, 2018
NPC21Apr 4, 2018
NPHS14Apr 4, 2018
NPHS22Apr 4, 2018
NSUN61Apr 4, 2018
OCLN1Apr 4, 2018
OPHN11Apr 4, 2018
PAH7Apr 4, 2018
PAX22Apr 4, 2018
PAX92Apr 4, 2018
PCCA2Apr 4, 2018
PCDH194Apr 4, 2018
PCK11Apr 4, 2018
PCNT20Apr 4, 2018
PCSK914Apr 4, 2018
PDYN1Apr 4, 2018
PDYN-AS11Apr 4, 2018
PEPD1Apr 4, 2018
PHGDH1Apr 4, 2018
PHKA21Apr 4, 2018
PHYH3Apr 4, 2018
PIGN3Apr 4, 2018
PIK3R22Apr 4, 2018
PKHD16Apr 4, 2018
PKP222Apr 4, 2018
PLCB16Apr 4, 2018
PLCE17Apr 4, 2018
PLCE1-AS12Apr 4, 2018
PLOD22Apr 4, 2018
PMM27Apr 4, 2018
PMS214Apr 4, 2018
PNKD1Apr 4, 2018
PNKP4Apr 4, 2018
PNP4Apr 4, 2018
PNPLA61Apr 4, 2018
POLD14Apr 4, 2018
POLH1Apr 4, 2018
PPT13Apr 4, 2018
PRF11Apr 4, 2018
PRG43Apr 4, 2018
PRICKLE21Apr 4, 2018
PRKCG5Apr 4, 2018
PRKRA1Apr 4, 2018
PROP11Apr 4, 2018
PRSS13Apr 4, 2018
PSENEN1Apr 4, 2018
PSMB81Apr 4, 2018
PYY2Apr 4, 2018
QDPR4Apr 4, 2018
RAB3GAP12Apr 4, 2018
RAB40AL3Apr 4, 2018
RAD501Apr 4, 2018
RAI11Apr 4, 2018
RANBP24Apr 4, 2018
RBM2031Apr 4, 2018
RELN14Apr 4, 2018
RETREG13Apr 4, 2018
RFXAP1Apr 4, 2018
RNASEH2B2Apr 4, 2018
RNASEH2C3Apr 4, 2018
RNASET22Apr 4, 2018
ROBO22Apr 4, 2018
ROGDI1Apr 4, 2018
RPL36A-HNRNPH24Apr 4, 2018
RS12Apr 4, 2018
SACS5Apr 4, 2018
SALL13Apr 4, 2018
SBDS1Apr 4, 2018
SBF22Apr 4, 2018
SBF2-AS11Apr 4, 2018
SCARB21Apr 4, 2018
SCARF22Apr 4, 2018
SDCCAG82Apr 4, 2018
SELENON3Apr 4, 2018
SEPTIN94Apr 4, 2018
SERPINA13Apr 4, 2018
SERPINF11Apr 4, 2018
SERPING12Apr 4, 2018
SGCE1Apr 4, 2018
SGCG1Apr 4, 2018
SGSH8Apr 4, 2018
SH3BP21Apr 4, 2018
SHANK22Apr 4, 2018
SHROOM42Apr 4, 2018
SIL11Apr 4, 2018
SIX51Apr 4, 2018
SLC12A32Apr 4, 2018
SLC12A65Apr 4, 2018
SLC19A14Apr 4, 2018
SLC19A32Apr 4, 2018
SLC20A21Apr 4, 2018
SLC34A31Apr 4, 2018
SLC5A51Apr 4, 2018
SLC6A34Apr 4, 2018
SLC6A52Apr 4, 2018
SLC6A82Apr 4, 2018
SLC9A3R11Apr 4, 2018
SLC9A62Apr 4, 2018
SLCO1B14Apr 4, 2018
SMARCA21Apr 4, 2018
SMS1Apr 4, 2018
SNAP292Apr 4, 2018
SNHG141Apr 4, 2018
SNHG221Apr 4, 2018
SP72Apr 4, 2018
SPAST1Apr 4, 2018
SPG118Apr 4, 2018
SPG74Apr 4, 2018
SPINK52Apr 4, 2018
SPRED14Apr 4, 2018
SPTAN11Apr 4, 2018
SPTBN23Apr 4, 2018
SPTLC11Apr 4, 2018
SPTLC21Apr 4, 2018
SQSTM12Apr 4, 2018
SRPX21Apr 4, 2018
ST142Apr 4, 2018
STIL3Apr 4, 2018
STRADA1Apr 4, 2018
STXBP15Apr 4, 2018
STXBP21Apr 4, 2018
SUFU1Apr 4, 2018
SUOX1Apr 4, 2018
SYCE21Apr 4, 2018
SYNE210Apr 4, 2018
SYNGAP12Apr 4, 2018
SYT142Apr 4, 2018
TAZ4Apr 4, 2018
TBP1Apr 4, 2018
TBX203Apr 4, 2018
TBX51Apr 4, 2018
TCTN24Apr 4, 2018
TEK3Apr 4, 2018
TGFB21Apr 4, 2018
TGM65Apr 4, 2018
TH3Apr 4, 2018
TLR31Apr 4, 2018
TMEM1271Apr 4, 2018
TMEM2311Apr 4, 2018
TNNI21Apr 4, 2018
TNNI35Apr 4, 2018
TNNT11Apr 4, 2018
TNNT31Apr 4, 2018
TOR1A1Apr 4, 2018
TP534Apr 4, 2018
TPO8Apr 4, 2018
TPP13Apr 4, 2018
TRB3Apr 4, 2018
TREM21Apr 4, 2018
TRIOBP1Apr 4, 2018
TSHB1Apr 4, 2018
TTC141Apr 4, 2018
TTC191Apr 4, 2018
TTPA2Apr 4, 2018
TUBGCP64Apr 4, 2018
UBA11Apr 4, 2018
UBE3A1Apr 4, 2018
UNC13D5Apr 4, 2018
UPK3A3Apr 4, 2018
VANGL11Apr 4, 2018
VCAN2Apr 4, 2018
VPS13A17Apr 4, 2018
VPS13B4Apr 4, 2018
VRK12Apr 4, 2018
WDPCP1Apr 4, 2018
WDR451Apr 4, 2018
WDR627Apr 4, 2018
WDR812Apr 4, 2018
WWOX2Apr 4, 2018
XDH1Apr 4, 2018
XIAP1Apr 4, 2018
ZDHHC242Apr 4, 2018
ZEB21Apr 4, 2018
ZFYVE261Apr 4, 2018
ZIC21Apr 4, 2018
ZNF46918Apr 4, 2018
ZNF5922Apr 4, 2018

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 24Apr 4, 2018
46,XY sex reversal, type 66Apr 4, 2018
ALG8-CDG2Apr 4, 2018
Aarskog syndrome2Apr 4, 2018
Abetalipoproteinaemia7Apr 4, 2018
Acne inversa, familial, 21Apr 4, 2018
Acute intermittent porphyria3Apr 4, 2018
Adams-Oliver syndrome 212Apr 4, 2018
Adrenoleukodystrophy3Apr 4, 2018
Agenesis of the corpus callosum with peripheral neuropathy5Apr 4, 2018
Aicardi Goutieres syndrome 22Apr 4, 2018
Aicardi Goutieres syndrome 33Apr 4, 2018
Alpha-1-antitrypsin deficiency3Apr 4, 2018
Alstrom syndrome3Apr 4, 2018
Amelogenesis imperfecta, hypocalcification type2Apr 4, 2018
Amyotrophic lateral sclerosis and/or frontotemporal dementia 12Apr 4, 2018
Amyotrophy, hereditary neuralgic4Apr 4, 2018
Angelman syndrome1Apr 4, 2018
Aortic aneurysm, familial thoracic 43Apr 4, 2018
Aortic aneurysm, familial thoracic 76Apr 4, 2018
Aortic valve disorder11Apr 4, 2018
Arginase deficiency1Apr 4, 2018
Arginine:glycine amidinotransferase deficiency3Apr 4, 2018
Arrhythmogenic right ventricular cardiomyopathy, type 1115Apr 4, 2018
Arrhythmogenic right ventricular dysplasia 922Apr 4, 2018
Aspartylglucosaminuria3Apr 4, 2018
Ataxia, spastic, 4, autosomal recessive2Apr 4, 2018
Ataxia-oculomotor apraxia type 12Apr 4, 2018
Ataxia-telangiectasia syndrome11Apr 4, 2018
Atrial fibrillation, familial, 71Apr 4, 2018
Atrial septal defect 43Apr 4, 2018
Auditory neuropathy, autosomal dominant, 11Apr 4, 2018
Autism 172Apr 4, 2018
Autosomal dominant nonsyndromic deafness 2A2Apr 4, 2018
Autosomal recessive DOPA responsive dystonia3Apr 4, 2018
Autosomal recessive cutis laxa type 1B1Apr 4, 2018
Autosomal recessive hypophosphatemic bone disease1Apr 4, 2018
Autosomal recessive polycystic kidney disease6Apr 4, 2018
Bamforth-Lazarus syndrome2Apr 4, 2018
Bardet-Biedl syndrome 119Apr 4, 2018
Bare lymphocyte syndrome 21Apr 4, 2018
Benign familial neonatal seizures 21Apr 4, 2018
Bietti crystalline corneoretinal dystrophy1Apr 4, 2018
Biotin-responsive basal ganglia disease2Apr 4, 2018
Biotinidase deficiency1Apr 4, 2018
Bloom syndrome1Apr 4, 2018
Branchiootorenal syndrome 21Apr 4, 2018
Breast-ovarian cancer, familial 1102Apr 4, 2018
Breast-ovarian cancer, familial 2141Apr 4, 2018
Brittle cornea syndrome 118Apr 4, 2018
Brody myopathy2Apr 4, 2018
Bruck syndrome 22Apr 4, 2018
Brugada syndrome 42Apr 4, 2018
CEDNIK syndrome2Apr 4, 2018
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Apr 4, 2018
Cardiac arrhythmia, ankyrin B-related7Apr 4, 2018
Cardiofaciocutaneous syndrome 42Apr 4, 2018
Cardiomyopathy, dilated, 2b2Apr 4, 2018
Carnitine palmitoyltransferase 1A deficiency1Apr 4, 2018
Cerebellar ataxia, Cayman type1Apr 4, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 22Apr 4, 2018
Cerebral folate transport deficiency2Apr 4, 2018
Ceroid lipofuscinosis neuronal 23Apr 4, 2018
Charcot-Marie-Tooth disease type 2P4Apr 4, 2018
Charcot-Marie-Tooth disease, type 1C1Apr 4, 2018
Charcot-Marie-Tooth disease, type 2N2Apr 4, 2018
Charcot-Marie-Tooth disease, type 4B11Apr 4, 2018
Charcot-Marie-Tooth disease, type 4B22Apr 4, 2018
Charcot-Marie-Tooth disease, type 4D1Apr 4, 2018
Charcot-Marie-Tooth disease, type 4H2Apr 4, 2018
Charlevoix-Saguenay spastic ataxia5Apr 4, 2018
Cholestanol storage disease2Apr 4, 2018
Choreoacanthocytosis17Apr 4, 2018
Christianson syndrome2Apr 4, 2018
Chromosome 2q37 deletion syndrome3Apr 4, 2018
Ciliary dyskinesia, primary, 105Apr 4, 2018
Ciliary dyskinesia, primary, 132Apr 4, 2018
Ciliary dyskinesia, primary, 142Apr 4, 2018
Ciliary dyskinesia, primary, 159Apr 4, 2018
Ciliary dyskinesia, primary, 191Apr 4, 2018
Ciliary dyskinesia, primary, 25Apr 4, 2018
Ciliary dyskinesia, primary, 94Apr 4, 2018
Citrullinemia type I1Apr 4, 2018
Classic homocystinuria2Apr 4, 2018
Cleft lip/palate-ectodermal dysplasia syndrome1Apr 4, 2018
Coenzyme Q10 deficiency, primary 13Apr 4, 2018
Coenzyme Q10 deficiency, primary, 46Apr 4, 2018
Cohen syndrome4Apr 4, 2018
Colorectal cancer 104Apr 4, 2018
Congenital cataracts-facial dysmorphism-neuropathy syndrome3Apr 4, 2018
Congenital contractural arachnodactyly4Apr 4, 2018
Congenital disorder of glycosylation type 1C2Apr 4, 2018
Congenital disorder of glycosylation type 1u2Apr 4, 2018
Congenital disorder of glycosylation, type Ia7Apr 4, 2018
Congenital hydrocephalus 11Apr 4, 2018
Congenital hyperammonemia, type I4Apr 4, 2018
Congenital microvillous atrophy4Apr 4, 2018
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A72Apr 4, 2018
Congenital sensory neuropathy with selective loss of small myelinated fibers1Apr 4, 2018
Congenital total pulmonary venous return anomaly10Apr 4, 2018
Cornelia de Lange syndrome 11Apr 4, 2018
Cortical malformations, occipital15Apr 4, 2018
Cranioectodermal dysplasia 11Apr 4, 2018
Creatine transporter deficiency2Apr 4, 2018
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities5Apr 4, 2018
Cutis laxa, autosomal recessive IIIA2Apr 4, 2018
Danon disease7Apr 4, 2018
Deafness, autosomal dominant 11Apr 4, 2018
Deafness, autosomal dominant 91Apr 4, 2018
Deafness, autosomal recessive 281Apr 4, 2018
Deafness, autosomal recessive 35Apr 4, 2018
Deafness, autosomal recessive 771Apr 4, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Apr 4, 2018
Deficiency of alpha-mannosidase3Apr 4, 2018
Deficiency of aromatic-L-amino-acid decarboxylase3Apr 4, 2018
Deficiency of ferroxidase5Apr 4, 2018
Deficiency of guanidinoacetate methyltransferase1Apr 4, 2018
Deficiency of iodide peroxidase8Apr 4, 2018
Deficiency of malonyl-CoA decarboxylase3Apr 4, 2018
Dihydropteridine reductase deficiency4Apr 4, 2018
Dihydropyrimidine dehydrogenase deficiency2Apr 4, 2018
Dilated cardiomyopathy 1AA24Apr 4, 2018
Dilated cardiomyopathy 1DD31Apr 4, 2018
Dilated cardiomyopathy 1JJ38Apr 4, 2018
Dilated cardiomyopathy 1KK22Apr 4, 2018
Disseminated atypical mycobacterial infection2Apr 4, 2018
Distal arthrogryposis type 2B2Apr 4, 2018
Distal hereditary motor neuronopathy type 2C2Apr 4, 2018
Donnai-Barrow syndrome3Apr 4, 2018
Dyskeratosis congenita, X-linked1Apr 4, 2018
Dystonia 11Apr 4, 2018
Dystonia 161Apr 4, 2018
Dystonia 241Apr 4, 2018
Early infantile epileptic encephalopathy 104Apr 4, 2018
Early infantile epileptic encephalopathy 126Apr 4, 2018
Early infantile epileptic encephalopathy 24Apr 4, 2018
Early infantile epileptic encephalopathy 45Apr 4, 2018
Early infantile epileptic encephalopathy 51Apr 4, 2018
Early infantile epileptic encephalopathy 94Apr 4, 2018
Ectodermal dysplasia and immunodeficiency 21Apr 4, 2018
Ectopia lentis et pupillae2Apr 4, 2018
Efavirenz response1Apr 4, 2018
Ehlers-Danlos syndrome dermatosparaxis type10Apr 4, 2018
Ehlers-Danlos syndrome progeroid type2Apr 4, 2018
Eichsfeld type congenital muscular dystrophy3Apr 4, 2018
Emery-Dreifuss muscular dystrophy 1, X-linked3Apr 4, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant10Apr 4, 2018
Encephalopathy, acute, infection-induced, 3, suceptibility to4Apr 4, 2018
Endometrial carcinoma1Apr 4, 2018
Epilepsy with grand mal seizures on awakening1Apr 4, 2018
Epilepsy, childhood absence 67Apr 4, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation3Apr 4, 2018
Epilepsy, idiopathic generalized 101Apr 4, 2018
Epilepsy, nocturnal frontal lobe, type 12Apr 4, 2018
Epilepsy, nocturnal frontal lobe, type 31Apr 4, 2018
Epilepsy, nocturnal frontal lobe, type 41Apr 4, 2018
Epilepsy, progressive myoclonic 4, with or without renal failure1Apr 4, 2018
Epilepsy, progressive myoclonic 51Apr 4, 2018
Epilepsy, progressive myoclonic 62Apr 4, 2018
Episodic ataxia type 11Apr 4, 2018
Fabry disease4Apr 4, 2018
Familial cold autoinflammatory syndrome 21Apr 4, 2018
Familial dysautonomia3Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 21Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 35Apr 4, 2018
Familial hypercholesterolemia 125Apr 4, 2018
Familial hypercholesterolemia 314Apr 4, 2018
Familial hypercholesterolemia 41Apr 4, 2018
Familial hypertrophic cardiomyopathy 13Apr 4, 2018
Familial hypertrophic cardiomyopathy 106Apr 4, 2018
Familial hypertrophic cardiomyopathy 165Apr 4, 2018
Familial hypertrophic cardiomyopathy 1712Apr 4, 2018
Familial hypertrophic cardiomyopathy 198Apr 4, 2018
Familial hypertrophic cardiomyopathy 453Apr 4, 2018
Familial hypertrophic cardiomyopathy 82Apr 4, 2018
Familial hypokalemia-hypomagnesemia2Apr 4, 2018
Familial isolated deficiency of vitamin E2Apr 4, 2018
Fanconi anemia, complementation group D23Apr 4, 2018
Fibrous dysplasia of jaw1Apr 4, 2018
Finnish congenital nephrotic syndrome4Apr 4, 2018
Focal segmental glomerulosclerosis 11Apr 4, 2018
Focal segmental glomerulosclerosis 3, susceptibility to1Apr 4, 2018
Fraser syndrome 135Apr 4, 2018
Friedreich ataxia 11Apr 4, 2018
Galactosylceramide beta-galactosidase deficiency10Apr 4, 2018
Galloway-Mowat syndrome 12Apr 4, 2018
Geleophysic dysplasia 19Apr 4, 2018
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency1Oct 13, 2015
Glutaric aciduria, type 14Apr 4, 2018
Glycogen storage disease type III1Apr 4, 2018
Glycogen storage disease type IXa11Apr 4, 2018
Glycogen storage disease, type II17Apr 4, 2018
Goldberg-Shprintzen megacolon syndrome2Apr 4, 2018
Hemangioma, capillary infantile1Apr 4, 2018
Hemophagocytic lymphohistiocytosis, familial, 51Apr 4, 2018
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts2Apr 4, 2018
Hennekam lymphangiectasia-lymphedema syndrome 11Apr 4, 2018
Hereditary angioedema type 12Apr 4, 2018
Hereditary coproporphyria2Apr 4, 2018
Hereditary hemorrhagic telangiectasia type 13Apr 4, 2018
Hereditary nonpolyposis colorectal cancer type 414Apr 4, 2018
Hereditary nonpolyposis colorectal cancer type 519Apr 4, 2018
Hereditary pancreatitis3Apr 4, 2018
Hereditary sensory and autonomic neuropathy type IC1Apr 4, 2018
Hereditary sensory and autonomic neuropathy type IIB3Apr 4, 2018
Hereditary spastic paraplegia 151Apr 4, 2018
Hereditary spastic paraplegia 391Apr 4, 2018
Hereditary spastic paraplegia 61Apr 4, 2018
Hereditary spastic paraplegia 74Apr 4, 2018
Hereditary xanthinuria type 11Apr 4, 2018
Herpes simplex encephalitis 21Apr 4, 2018
Heterotaxy, visceral, 4, autosomal3Apr 4, 2018
Heterotopia, periventricular, autosomal recessive1Apr 4, 2018
Holoprosencephaly 51Apr 4, 2018
Holoprosencephaly 91Apr 4, 2018
Holt-Oram syndrome1Apr 4, 2018
Hydatidiform mole, recurrent, 14Apr 4, 2018
Hyper-IgM syndrome type 12Apr 4, 2018
Hyper-IgM syndrome type 22Apr 4, 2018
Hyper-IgM syndrome type 31Apr 4, 2018
Hyperalphalipoproteinemia 12Apr 4, 2018
Hyperalphalipoproteinemia 21Apr 4, 2018
Hyperammonemia, type III2Apr 4, 2018
Hypercalcemia, infantile, 11Apr 4, 2018
Hyperekplexia 11Apr 4, 2018
Hyperekplexia 32Apr 4, 2018
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities4Apr 4, 2018
Hypothyroidism, central, and testicular enlargement3Apr 4, 2018
Ichthyosis, congenital, autosomal recessive 112Apr 4, 2018
Idiopathic basal ganglia calcification 11Apr 4, 2018
Idiopathic nephrotic syndrome2Apr 4, 2018
Immunodeficiency 182Apr 4, 2018
Immunodeficiency 511Apr 4, 2018
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Apr 4, 2018
Infantile nephronophthisis2Apr 4, 2018
Inflammatory bowel disease 28, autosomal recessive1Apr 4, 2018
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital1Apr 4, 2018
Iodotyrosine deiodination defect1Apr 4, 2018
Isolated lutropin deficiency4Apr 4, 2018
Isolated sulfite oxidase deficiency1Apr 4, 2018
Isovaleryl-CoA dehydrogenase deficiency1Apr 4, 2018
Joubert syndrome 174Apr 4, 2018
Joubert syndrome 201Apr 4, 2018
Joubert syndrome 33Apr 4, 2018
Joubert syndrome 81Apr 4, 2018
KBG syndrome1Apr 4, 2018
Kabuki syndrome 11Apr 4, 2018
Kabuki syndrome 21Apr 4, 2018
Kartagener syndrome1Apr 4, 2018
Knobloch syndrome 16Apr 4, 2018
Kohlschutter's syndrome1Apr 4, 2018
Kufor-Rakeb syndrome10Apr 4, 2018
Lafora disease4Apr 4, 2018
Left ventricular noncompaction 18Apr 4, 2018
Left ventricular noncompaction 75Apr 4, 2018
Legius syndrome4Apr 4, 2018
Leptin receptor deficiency3Apr 4, 2018
Leukocyte adhesion deficiency, type III1Apr 4, 2018
Leukoencephalopathy, cystic, without megalencephaly2Apr 4, 2018
Li-Fraumeni syndrome 14Apr 4, 2018
Limb-girdle muscular dystrophy-dystroglycanopathy, type C91Apr 4, 2018
Loeys-Dietz syndrome 41Apr 4, 2018
Long QT syndrome 1111Apr 4, 2018
Lymphoproliferative syndrome 2, X-linked1Apr 4, 2018
Lynch syndrome I9Apr 4, 2018
Lynch syndrome II11Apr 4, 2018
Lysosomal acid lipase deficiency1Apr 4, 2018
MPI-CDG4Apr 4, 2018
Malignant tumor of esophagus2Apr 4, 2018
Mandibulofacial dysostosis-microcephaly syndrome3Apr 4, 2018
Maple syrup urine disease3Apr 4, 2018
Maple syrup urine disease, type 32Apr 4, 2018
Marinesco-Sjögren syndrome1Apr 4, 2018
Meckel syndrome type 84Apr 4, 2018
Meckel syndrome, type 101Apr 4, 2018
Meckel syndrome, type 91Apr 4, 2018
Medulloblastoma1Apr 4, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12Apr 4, 2018
Meier-Gorlin syndrome 42Apr 4, 2018
Mental retardation 3, X-linked1Apr 4, 2018
Mental retardation 46, X-linked1Apr 4, 2018
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Apr 4, 2018
Mental retardation, X-linked 12Apr 4, 2018
Mental retardation, X-linked 931Apr 4, 2018
Mental retardation, X-linked, syndromic, martin-probst type3Apr 4, 2018
Mental retardation, X-linked, syndromic, wu type1Apr 4, 2018
Mental retardation, autosomal dominant 142Apr 4, 2018
Mental retardation, autosomal dominant 52Apr 4, 2018
Mental retardation, autosomal dominant 64Apr 4, 2018
Mental retardation, autosomal recessive 181Apr 4, 2018
Mental retardation, autosomal recessive 31Apr 4, 2018
Merosin deficient congenital muscular dystrophy12Apr 4, 2018
Methylmalonic acidemia with homocystinuria cblD1Apr 4, 2018
Methylmalonic aciduria and homocystinuria type cblF1Apr 4, 2018
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5Apr 4, 2018
Microcephalic osteodysplastic primordial dwarfism type II20Apr 4, 2018
Microcephaly and chorioretinopathy, autosomal recessive, 14Apr 4, 2018
Microcephaly, postnatal progressive, with seizures and brain atrophy5Apr 4, 2018
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Apr 4, 2018
Mitochondrial complex I deficiency1Apr 4, 2018
Mitochondrial complex III deficiency, nuclear type 21Apr 4, 2018
Molybdenum cofactor deficiency, complementation group A3Apr 4, 2018
Mowat-Wilson syndrome1Apr 4, 2018
Mucopolysaccharidosis type 71Apr 4, 2018
Mucopolysaccharidosis, MPS-II1Apr 4, 2018
Mucopolysaccharidosis, MPS-III-A8Apr 4, 2018
Mucopolysaccharidosis, MPS-III-B6Apr 4, 2018
Mucopolysaccharidosis, MPS-III-C1Apr 4, 2018
Mucopolysaccharidosis, MPS-III-D2Apr 4, 2018
Mucopolysaccharidosis, MPS-IV-A3Apr 4, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 13Apr 4, 2018
Multiple cutaneous and mucosal venous malformations3Apr 4, 2018
Multiple endocrine neoplasia, type 42Apr 4, 2018
Myoclonic dystonia 111Apr 4, 2018
Myopathy, proximal, and ophthalmoplegia4Apr 4, 2018
N-terminal acetyltransferase deficiency1Apr 4, 2018
Nemaline myopathy 21Apr 4, 2018
Nemaline myopathy 51Apr 4, 2018
Nephrogenic diabetes insipidus, autosomal1Apr 4, 2018
Nephrolithiasis/osteoporosis, hypophosphatemic, 21Apr 4, 2018
Nephrotic syndrome, type 37Apr 4, 2018
Netherton syndrome2Apr 4, 2018
Neuroblastoma 311Apr 4, 2018
Neurodegeneration with brain iron accumulation 42Apr 4, 2018
Neurodegeneration with brain iron accumulation 51Apr 4, 2018
Neuronal ceroid lipofuscinosis 13Apr 4, 2018
Neuronal ceroid lipofuscinosis 102Apr 4, 2018
Neuronal ceroid lipofuscinosis 53Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type 1A1Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type VI7Apr 4, 2018
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive5Apr 4, 2018
Nicolaides-Baraitser syndrome1Apr 4, 2018
Niemann-Pick disease type C119Apr 4, 2018
Niemann-Pick disease, type C21Apr 4, 2018
Nijmegen breakage syndrome-like disorder1Apr 4, 2018
Non-ketotic hyperglycinemia7Apr 4, 2018
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Apr 4, 2018
Norman-Roberts syndrome14Apr 4, 2018
Obesity2Apr 4, 2018
Oculofaciocardiodental syndrome3Apr 4, 2018
Osteogenesis imperfecta type 122Apr 4, 2018
Osteogenesis imperfecta type 51Apr 4, 2018
Osteogenesis imperfecta type 74Apr 4, 2018
Osteogenesis imperfecta, type VI1Apr 4, 2018
Pachyonychia congenita 21Apr 4, 2018
Paget disease of bone 2, early-onset2Apr 4, 2018
Parkinson disease 115Apr 4, 2018
Parkinson disease 156Apr 4, 2018
Parkinson disease 183Apr 4, 2018
Parkinsonism-dystonia, infantile, 14Apr 4, 2018
Paroxysmal nonkinesigenic dyskinesia 11Apr 4, 2018
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1Apr 4, 2018
Persistent Mullerian duct syndrome2Apr 4, 2018
Phenylketonuria7Apr 4, 2018
Pheochromocytoma1Apr 4, 2018
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1Apr 4, 2018
Phosphoglycerate dehydrogenase deficiency1Apr 4, 2018
Phytanic acid storage disease3Apr 4, 2018
Pituitary hormone deficiency, combined 21Apr 4, 2018
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11Apr 4, 2018
Polyhydramnios, megalencephaly, and symptomatic epilepsy1Apr 4, 2018
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract1Apr 4, 2018
Pontocerebellar hypoplasia type 1A2Apr 4, 2018
Pontocerebellar hypoplasia, type 1b1Apr 4, 2018
Porphobilinogen synthase deficiency1Apr 4, 2018
Posterior column ataxia-retinitis pigmentosa syndrome4Apr 4, 2018
Primary autosomal recessive microcephaly 19Apr 4, 2018
Primary autosomal recessive microcephaly 27Apr 4, 2018
Primary autosomal recessive microcephaly 33Apr 4, 2018
Primary autosomal recessive microcephaly 515Apr 4, 2018
Primary autosomal recessive microcephaly 73Apr 4, 2018
Primary autosomal recessive microcephaly 81Apr 4, 2018
Prolidase deficiency1Apr 4, 2018
Propionic acidemia2Apr 4, 2018
Proteasome-associated autoinflammatory syndrome 11Apr 4, 2018
Protoporphyria, erythropoietic, 12Apr 4, 2018
Pseudo-TORCH syndrome 11Apr 4, 2018
Purine-nucleoside phosphorylase deficiency4Apr 4, 2018
Pyridoxine-dependent epilepsy1Apr 4, 2018
Pyruvate dehydrogenase E2 deficiency2Apr 4, 2018
Renal coloboma syndrome2Apr 4, 2018
Renal hypodysplasia/aplasia 13Apr 4, 2018
Retinitis pigmentosa 258Apr 4, 2018
Retinitis pigmentosa 262Apr 4, 2018
Retinitis pigmentosa 281Apr 4, 2018
Retinitis pigmentosa 451Apr 4, 2018
Rett syndrome, congenital variant2Apr 4, 2018
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked1Apr 4, 2018
Rotor syndrome4Apr 4, 2018
Saldino-Mainzer syndrome6Apr 4, 2018
Sandhoff disease1Apr 4, 2018
Secondary hypothyroidism1Apr 4, 2018
Senior-Loken syndrome 72Apr 4, 2018
Severe X-linked myotubular myopathy1Apr 4, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type1Apr 4, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1Apr 4, 2018
Short rib-polydactyly syndrome, Majewski type1Apr 4, 2018
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Apr 4, 2018
Shwachman-Diamond syndrome 11Apr 4, 2018
Sinoatrial node dysfunction and deafness3Apr 4, 2018
Sjögren-Larsson syndrome1Apr 4, 2018
Skin/hair/eye pigmentation, variation in, 12Apr 4, 2018
Slowed nerve conduction velocity, autosomal dominant5Apr 4, 2018
Smith-Lemli-Opitz syndrome3Apr 4, 2018
Smith-Magenis syndrome1Apr 4, 2018
Spastic paraplegia 11, autosomal recessive8Apr 4, 2018
Spastic paraplegia 351Apr 4, 2018
Spastic paraplegia 4, autosomal dominant1Apr 4, 2018
Spastic paraplegia 47, autosomal recessive1Apr 4, 2018
Spastic paraplegia 51, autosomal recessive3Apr 4, 2018
Spherocytosis type 16Apr 4, 2018
Spinal muscular atrophy, X-linked 21Apr 4, 2018
Spinal muscular atrophy, distal, autosomal recessive, 18Apr 4, 2018
Spinocerebellar ataxia 355Apr 4, 2018
Spinocerebellar ataxia type 133Apr 4, 2018
Spinocerebellar ataxia type 145Apr 4, 2018
Spinocerebellar ataxia type 171Apr 4, 2018
Spinocerebellar ataxia type 231Apr 4, 2018
Spinocerebellar ataxia type 53Apr 4, 2018
Spinocerebellar ataxia, X-linked 17Apr 4, 2018
Spinocerebellar ataxia, autosomal recessive 105Apr 4, 2018
Spinocerebellar ataxia, autosomal recessive 112Apr 4, 2018
Spinocerebellar ataxia, autosomal recessive 135Apr 4, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations1Apr 4, 2018
Steinert myotonic dystrophy syndrome1Apr 4, 2018
Succinate-semialdehyde dehydrogenase deficiency1Apr 4, 2018
Syndromic X-linked intellectual disability Snyder type1Apr 4, 2018
Syndromic X-linked mental retardation, Cabezas type1Apr 4, 2018
Tay-Sachs disease3Apr 4, 2018
Telangiectasia, hereditary hemorrhagic, type 22Apr 4, 2018
Thyroglobulin synthesis defect5Apr 4, 2018
Thyroid dyshormonogenesis 11Apr 4, 2018
Thyroid dyshormonogenesis 65Apr 4, 2018
Tooth agenesis, selective, 32Apr 4, 2018
Townes-Brocks syndrome 13Apr 4, 2018
Tyrosinemia type I3Apr 4, 2018
Usher syndrome, type 3B1Apr 4, 2018
Van den Ende-Gupta syndrome2Apr 4, 2018
Ventricular tachycardia, catecholaminergic polymorphic, 24Apr 4, 2018
Vesicoureteral reflux 22Apr 4, 2018
Vitamin B12-responsive methylmalonic acidemia type cblA1Apr 4, 2018
Vitamin B12-responsive methylmalonic acidemia type cblB3Apr 4, 2018
Wagner syndrome2Apr 4, 2018
Warburg micro syndrome 12Apr 4, 2018
Weill-Marchesani syndrome 11Apr 4, 2018
Weill-Marchesani syndrome 410Apr 4, 2018
Wilson disease15Apr 4, 2018
Wolcott-Rallison dysplasia4Apr 4, 2018
X-Linked Mental Retardation 881Apr 4, 2018
X-Linked mental retardation 901Apr 4, 2018
X-linked chondrodysplasia punctata 11Apr 4, 2018
X-linked intellectual disability, Stocco dos Santos type2Apr 4, 2018
Xeroderma pigmentosum variant type1Apr 4, 2018
Xeroderma pigmentosum, group G4Apr 4, 2018
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