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Department of Clinical Genetics (Copenhagen University Hospital, Rigshospitalet), MGL_KC

General information

Department of Clinical Genetics, MGL_KC
Copenhagen University Hospital, Rigshospitalet
Glostrup
Hovedstaden
Denmark - DK-2600
http://www.rigshospitalet.dk/
Organization ID: 1147

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1324

Gene

GeneSubmissionsLast Updated
AAGAB1May 6, 2025
ABCA479Dec 5, 2018
ACO21May 2, 2022
ACTB1May 2, 2022
ACVRL11May 2, 2022
ADCY51May 2, 2022
ADGRA31Dec 5, 2018
ADGRV12Dec 5, 2018
ADPRS2May 2, 2022
AIPL15Dec 5, 2018
ALMS11Dec 5, 2018
ALPL1May 6, 2025
ANKRD117May 2, 2022
APC1Jun 22, 2023
AQP21May 2, 2022
AQP5-AS11May 2, 2022
ARID1B2May 2, 2022
ARID21May 2, 2022
ASPM1May 2, 2022
ASXL31May 2, 2022
ATM21Nov 18, 2025
ATP6V0A12May 6, 2025
AVPR21May 6, 2025
B4GALT72May 2, 2022
B9D11May 2, 2022
BAP16Jul 2, 2025
BARD13Mar 3, 2025
BBS18Dec 5, 2018
BBS102Dec 5, 2018
BBS122Dec 5, 2018
BBS24Dec 5, 2018
BBS41Dec 5, 2018
BBS51Dec 5, 2018
BBS71Dec 5, 2018
BBS92Dec 5, 2018
BCL11A1May 2, 2022
BCOR1May 2, 2022
BEST119Dec 5, 2018
BICD21May 2, 2022
BLOC1S1-RDH51Dec 5, 2018
BLOC1S61Jul 2, 2025
BMPR1B1May 2, 2022
BMPR21May 2, 2022
BRCA170Nov 18, 2025
BRCA2104Nov 18, 2025
BRIP15Mar 3, 2025
C10orf1051Dec 5, 2018
C11orf659Nov 18, 2025
CA41Dec 5, 2018
CABP45Dec 5, 2018
CACNA1A1Oct 5, 2022
CACNA1F7Dec 5, 2018
CACNA2D41Dec 5, 2018
CACNG21May 2, 2022
CAMTA11May 2, 2022
CAPN31May 6, 2020
CBS2May 6, 2025
CCDC221May 2, 2022
CDH18Nov 18, 2025
CDH237Dec 5, 2018
CDH23-AS11Dec 5, 2018
CDH31Dec 5, 2018
CDH3-AS11Dec 5, 2018
CDHR13Dec 5, 2018
CDK131May 2, 2022
CDKN2A1Nov 18, 2025
CEP1521May 2, 2022
CEP2909Dec 5, 2018
CERKL4Dec 5, 2018
CHD21May 6, 2025
CHD81May 2, 2022
CHEK214May 6, 2025
CHM2Dec 5, 2018
CHRNG2May 2, 2022
CLCN42May 2, 2022
CLN61May 6, 2025
CLRN11Dec 5, 2018
CNGA13Dec 5, 2018
CNGB111Dec 5, 2018
CNGB37Dec 5, 2018
CNKSR22May 2, 2022
CNNM41Dec 5, 2018
CNPY21May 2, 2022
CNTNAP12May 2, 2022
COL11A11May 2, 2022
COL12A11May 2, 2022
COL1A13May 6, 2025
COL27A11May 2, 2022
COL2A11May 2, 2022
COL3A12May 6, 2025
COL4A12May 2, 2022
COL4A22May 2, 2022
COL4A2-AS21May 2, 2022
COL4A33May 6, 2025
COL4A51May 2, 2022
COL5A12May 6, 2025
COL6A11Feb 15, 2023
COL6A21May 2, 2022
COL6A31May 2, 2022
COMP1May 2, 2022
COQ43May 6, 2025
CRB117Dec 5, 2018
CREBBP3May 2, 2022
CRX7Dec 5, 2018
CSDE11Jul 2, 2025
CUL31May 6, 2025
CUL4B1May 2, 2022
CYLD1May 6, 2025
CYLD-AS21May 6, 2025
DCAF171May 2, 2022
DCTN51Mar 3, 2025
DICER110May 6, 2025
DMAP12May 2, 2022
DMD1May 6, 2025
DMP1-AS11May 2, 2022
DNM21May 6, 2025
DNMT11May 2, 2022
DOCK61May 2, 2022
DONSON1May 2, 2022
DROSHA1Jul 2, 2025
DSG11Nov 18, 2025
DSG1-AS11Nov 18, 2025
DSPP1May 2, 2022
ECEL11May 2, 2022
EDA1May 2, 2022
EHMT11May 2, 2022
ELN1May 2, 2022
ENG1Nov 18, 2025
EPG52May 2, 2022
ETFDH2May 6, 2025
EYS28Dec 5, 2018
FAM161A4Dec 5, 2018
FANCM3Nov 19, 2025
FBN13May 6, 2025
FBXO112May 2, 2022
FBXO71May 2, 2022
FGD11May 2, 2022
FLNA2May 2, 2022
FLVCR12May 2, 2022
FOXP12May 2, 2022
FRAS12May 2, 2022
GAN1May 2, 2022
GANAB1May 6, 2025
GBF11May 6, 2025
GDF61May 2, 2022
GJB11Jul 2, 2025
GLDC1Nov 18, 2025
GLI32May 2, 2022
GLMN1May 6, 2025
GNAS1May 2, 2022
GNAT11Dec 5, 2018
GOSR22Feb 16, 2021
GPHN5Dec 5, 2018
GPR1792Dec 5, 2018
GRIN11May 6, 2025
GRIN2A1May 2, 2022
GRIN2B1May 2, 2022
GRK11Dec 5, 2018
GRM64Dec 5, 2018
GRN1May 6, 2025
GUCA1A2Dec 5, 2018
GUCA1ANB-GUCA1A2Dec 5, 2018
GUCY2D6May 2, 2022
H1-41May 2, 2022
HARS25May 20, 2019
HEXB1May 2, 2022
HMGA21May 2, 2022
HNF4A1May 2, 2022
HPS11Jul 2, 2025
HPS42Jul 2, 2025
HSPB11Jul 2, 2025
HSPG22May 2, 2022
HUWE11May 2, 2022
HYCC11May 2, 2022
IDH3A1May 2, 2022
IDH3B1Dec 5, 2018
IDUA1May 2, 2022
IGF21May 2, 2022
IMPA11May 2, 2022
IMPDH14Dec 5, 2018
IMPG23Dec 5, 2018
INS-IGF21May 2, 2022
IPO81Dec 13, 2024
IQCB12Dec 5, 2018
IRF2BPL1May 2, 2022
ITPR31May 6, 2025
JMJD81May 2, 2022
KARS12May 2, 2022
KAT6B1May 2, 2022
KCNT21May 2, 2022
KCNV22Dec 5, 2018
KDM5C1May 2, 2022
KDM6A1May 2, 2022
KIF111May 2, 2022
KIT2Mar 3, 2025
KMT2A3May 2, 2022
KMT2B1May 2, 2022
KMT2C1May 2, 2022
KMT2D1May 2, 2022
KMT5B1May 2, 2022
KRAS1Jul 2, 2025
KRT6A1Jul 2, 2025
LAMP21May 2, 2022
LETM11May 2, 2022
LINS11May 2, 2022
LMNA1May 6, 2025
LOC1005062351May 2, 2022
LOC1014482021May 6, 2025
LOC1019271573Dec 5, 2018
LOC1073033401Dec 13, 2024
LOC1079822341Mar 3, 2025
LOC1118285171Dec 5, 2018
LOC1217406381May 2, 2022
LOC1221522961Dec 5, 2018
LOC12680579310Dec 5, 2018
LOC1268057941Dec 5, 2018
LOC1268071251May 2, 2022
LOC1268603921Dec 5, 2018
LOC1268607361May 2, 2022
LOC1268612421May 2, 2022
LOC1268615201May 2, 2022
LOC12686257119Nov 18, 2025
LOC1268625781Feb 16, 2021
LOC1293909031Dec 13, 2024
LOC1300027041May 6, 2025
LOC1300030791May 2, 2022
LOC1300080581May 6, 2025
LOC1300554031May 6, 2025
LOC1300627941May 2, 2022
LOC1300628991Jan 22, 2025
LOC1300680981Dec 5, 2018
LOC1300682022Dec 5, 2018
LOX4May 6, 2025
LRAT1Dec 5, 2018
LRP21Jul 2, 2025
LRP61May 6, 2025
LRRC37A22Feb 16, 2021
LRSAM12May 6, 2025
MAK2Dec 5, 2018
MAN1B11May 2, 2022
MAP2K11Jul 2, 2025
MAST11May 2, 2022
MCOLN12May 2, 2022
MEA11May 2, 2022
MECP21May 2, 2022
MED13L1May 2, 2022
MERTK8Dec 5, 2018
MFF-DT3May 6, 2025
MFN22May 6, 2025
MKKS3Dec 5, 2018
MKS12Dec 5, 2018
MLH14Nov 18, 2025
MLH32Jan 22, 2025
MMP131May 2, 2022
MPZ2Jul 2, 2025
MRPL391Mar 24, 2022
MSH26Nov 18, 2025
MSH643May 6, 2025
MSX21May 2, 2022
MT-TE1Jan 13, 2021
MYCN1May 2, 2022
MYCNOS1May 2, 2022
MYEF21Jul 2, 2025
MYH32May 2, 2022
MYLK1Jun 22, 2023
MYO7A7Dec 5, 2018
NAA151May 2, 2022
NDUFA82May 2, 2022
NDUFV12May 2, 2022
NEB1May 2, 2022
NF112Nov 18, 2025
NOD21May 2, 2022
NONO1May 2, 2022
NOTCH21Jan 22, 2019
NPHP11May 2, 2022
NPHP31May 2, 2022
NPHP3-ACAD111May 2, 2022
NPHP3-AS11May 2, 2022
NR2E37Dec 5, 2018
NRAS1Jul 2, 2025
NSD21May 2, 2022
OCA23Jul 2, 2025
OTOA1May 2, 2022
PACS21May 2, 2022
PALB213Mar 3, 2025
PBX11May 2, 2022
PCARE3Dec 5, 2018
PCDH121May 2, 2022
PCDH152Dec 5, 2018
PDE6A9Dec 5, 2018
PDE6B11Dec 5, 2018
PDE6B-AS11Dec 5, 2018
PDGFB1May 2, 2022
PHF34Dec 5, 2018
PIK3CA2Nov 18, 2025
PIK3R12Jun 13, 2022
PITPNM32Dec 5, 2018
PKD15May 6, 2025
PKD23Jul 2, 2025
PMS22May 27, 2024
POLG1May 6, 2025
POLR2F7May 5, 2021
POLR3H1May 2, 2022
POT16May 6, 2025
POU3F31Oct 27, 2022
PPP1CB1Jul 2, 2025
PPP1R12A1May 2, 2022
PPP2CA1May 2, 2022
PPP2R5D1May 2, 2022
PRMT71May 2, 2022
PROM16Dec 5, 2018
PRPF3115Dec 5, 2018
PRPF31-AS15Dec 5, 2018
PRPF81Dec 5, 2018
PRPH218Dec 5, 2018
PSEN11May 6, 2025
PSMD121May 2, 2022
PTEN1Jun 22, 2023
PTPN112Jul 2, 2025
PURA1May 2, 2022
RAB281Dec 5, 2018
RAB39B1May 2, 2022
RAD51C9Mar 3, 2025
RAD51D5Mar 3, 2025
RAD51L3-RFFL5Mar 3, 2025
RAI13May 2, 2022
RDH125Dec 5, 2018
RDH51Dec 5, 2018
RET1Jul 2, 2025
RGS91Dec 5, 2018
RHO13Dec 5, 2018
RIF11May 2, 2022
RLBP11Dec 5, 2018
RNF141May 2, 2022
ROM11Dec 5, 2018
ROR22May 2, 2022
RP115Dec 5, 2018
RP26Dec 5, 2018
RPE654Dec 5, 2018
RPGR13Dec 5, 2018
RPGRIP11Dec 5, 2018
RYR12May 6, 2025
SACS1May 2, 2022
SAG1Dec 5, 2018
SALL13May 2, 2022
SASS61May 2, 2022
SC5D2May 2, 2022
SCN8A1May 2, 2022
SCUBE31May 2, 2022
SDHB12Mar 3, 2025
SDHC6Mar 3, 2025
SDHD3Mar 3, 2025
SETD21May 2, 2022
SETD53May 2, 2022
SKI1May 2, 2022
SLC24A52Jul 2, 2025
SLC25A462May 2, 2022
SLC34A11May 2, 2022
SLC39A82May 2, 2022
SLC52A21May 2, 2022
SLC6A11May 6, 2025
SLC6A1-AS11May 6, 2025
SMAD33May 6, 2025
SMARCA41Mar 3, 2025
SMARCC21May 6, 2025
SMC1A1May 2, 2022
SMOC21May 2, 2022
SNHG141May 2, 2022
SNRNP2002Dec 5, 2018
SOX107May 5, 2021
SOX21May 2, 2022
SOX2-OT1May 2, 2022
SOX31Oct 16, 2017
SPAST1May 6, 2025
SPIN41May 6, 2025
SPIN4-AS11May 6, 2025
SPTAN11May 2, 2022
SRFBP14May 6, 2025
ST3GAL51May 2, 2022
STIL2May 2, 2022
STIM11May 2, 2022
STK1125Jan 22, 2025
STRA61May 2, 2022
STUB11May 2, 2022
SZT21May 2, 2022
TAF11May 2, 2022
TAFAZZIN1May 2, 2022
TARDBP1May 6, 2025
TARS29May 2, 2022
TBL1XR11May 2, 2022
TCF202May 2, 2022
TCF42May 2, 2022
TERT1Nov 18, 2025
TFAP2A1May 2, 2022
TFAP2A-AS21May 2, 2022
TGFB22May 6, 2025
TGFBR21May 6, 2025
TINF21May 6, 2025
TNXB1May 6, 2025
TOPORS2Dec 5, 2018
TP5339Nov 18, 2025
TRAF71May 2, 2022
TRIO3May 2, 2022
TRPM12Dec 5, 2018
TSC11May 6, 2025
TSC22May 2, 2022
TTC83Dec 5, 2018
TUBB1May 6, 2025
TUBB2B1May 2, 2022
TUBB31May 2, 2022
TULP13Dec 5, 2018
TWNK1May 2, 2022
TXNL4A2May 2, 2022
TYR11Jul 2, 2025
UBAP11May 2, 2022
UBE3A1May 2, 2022
UGT1A2May 2, 2022
UGT1A12May 2, 2022
UGT1A102May 2, 2022
UGT1A32May 2, 2022
UGT1A42May 2, 2022
UGT1A52May 2, 2022
UGT1A62May 2, 2022
UGT1A72May 2, 2022
UGT1A82May 2, 2022
UGT1A92May 2, 2022
USH1C1Dec 5, 2018
USH2A55Oct 25, 2021
USH2A-AS13Dec 5, 2018
USH2A-AS27Dec 5, 2018
VHL1Dec 13, 2024
VLDLR1May 2, 2022
WAC1May 2, 2022
WDR261May 2, 2022
WDR622May 2, 2022
WHRN1Dec 5, 2018
WRN1May 6, 2025
WT11Mar 3, 2025
YARS11May 2, 2022
YY11May 2, 2022
YY1AP11May 2, 2022
ZBTB181May 2, 2022
ZDHHC248Dec 5, 2018
ZEB21Sep 1, 2023
ZFYVE261Dec 5, 2018
ZMYND111May 2, 2022
ZNF1422May 2, 2022
ZNF411May 2, 2022
ZNF4542Dec 5, 2018
ZNF4691May 2, 2022

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21May 2, 2022
Aarskog syndrome1May 2, 2022
Abnormal facial shape4May 2, 2022
Abnormal retinal morphology1May 2, 2022
Abnormality of the face2May 2, 2022
Achromatopsia6Dec 5, 2018
Acromesomelic dysplasia 31May 2, 2022
Adams-Oliver syndrome 21May 2, 2022
Adult hypophosphatasia1May 6, 2025
Aland island eye disease5Dec 5, 2018
Alzheimer disease 31May 6, 2025
Amyotrophic lateral sclerosis type 101May 6, 2025
Aneurysm-osteoarthritis syndrome2May 6, 2025
Angelman syndrome1May 2, 2022
Anophthalmia/microphthalmia-esophageal atresia syndrome1May 2, 2022
Aortic aneurysm, familial thoracic 104May 6, 2025
Ataxia-telangiectasia syndrome21Nov 18, 2025
Autism1May 2, 2022
Autosomal dominant Alport syndrome3May 6, 2025
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1May 2, 2022
Autosomal recessive Robinow syndrome2May 2, 2022
Autosomal recessive multiple pterygium syndrome2May 2, 2022
Autosomal recessive nonsyndromic hearing loss 221May 2, 2022
Autosomal recessive spinocerebellar ataxia 161May 2, 2022
BAP1-related tumor predisposition syndrome6Jul 2, 2025
Baraitser-Winter syndrome 11May 2, 2022
Bardet-Biedl syndrome7Dec 5, 2018
Basal ganglia calcification, idiopathic, 51May 2, 2022
Becker muscular dystrophy1May 6, 2025
Bethlem myopathy 1A1May 2, 2022
Bethlem myopathy 21May 2, 2022
Bietti crystalline corneoretinal dystrophy2Dec 5, 2018
Blau syndrome1May 2, 2022
Brain small vessel disease 1 with or without ocular anomalies2May 2, 2022
Branchiooculofacial syndrome1May 2, 2022
Breast-ovarian cancer, familial, susceptibility to, 157Jan 22, 2025
Breast-ovarian cancer, familial, susceptibility to, 282Nov 7, 2025
Brittle cornea syndrome 11May 2, 2022
Brooke-Spiegler syndrome1May 6, 2025
Brown-Vialetto-van Laere syndrome 21May 2, 2022
CDH1-related diffuse gastric and lobular breast cancer syndrome2Nov 18, 2025
CLOVES syndrome2May 2, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1May 2, 2022
Cardiac, facial, and digital anomalies with developmental delay2Jul 2, 2025
Central core myopathy2May 6, 2025
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11May 2, 2022
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1May 2, 2022
Ceroid lipofuscinosis, neuronal, 6A1May 6, 2025
Charcot-Marie-Tooth Disease, axonal, type 2GG1May 6, 2025
Charcot-Marie-Tooth disease X-linked dominant 11Jul 2, 2025
Charcot-Marie-Tooth disease axonal type 2P2May 6, 2025
Charcot-Marie-Tooth disease dominant intermediate B1May 6, 2025
Charcot-Marie-Tooth disease dominant intermediate C1May 2, 2022
Charcot-Marie-Tooth disease type 1B2Jul 2, 2025
Charcot-Marie-Tooth disease type 2A22May 6, 2025
Charcot-Marie-Tooth disease, demyelinating, type 1J1May 6, 2025
Charlevoix-Saguenay spastic ataxia1May 2, 2022
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome2May 2, 2022
Classic homocystinuria2May 6, 2025
Coffin-Siris syndrome 12May 2, 2022
Coffin-Siris syndrome 61May 2, 2022
Coffin-Siris syndrome 81May 6, 2025
Cognitive impairment with or without cerebellar ataxia1May 2, 2022
Colorectal cancer, hereditary nonpolyposis, type 24Nov 18, 2025
Colorectal cancer, hereditary nonpolyposis, type 72Jan 22, 2025
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11May 6, 2025
Combined oxidative phosphorylation defect type 218Jun 17, 2021
Complex cortical dysplasia with other brain malformations 11May 2, 2022
Complex cortical dysplasia with other brain malformations 61May 6, 2025
Complex cortical dysplasia with other brain malformations 71May 2, 2022
Cone-rod dystrophy19Dec 5, 2018
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1May 2, 2022
Congenital blindness1May 2, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 2, 2022
Congenital muscular hypertrophy-cerebral syndrome1May 2, 2022
Congenital stationary night blindness6Dec 5, 2018
Craniosynostosis 21May 2, 2022
Craniosynostosis syndrome1May 2, 2022
Cutis laxa, autosomal dominant 11May 2, 2022
DICER1-related tumor predisposition10May 6, 2025
Danon disease1May 2, 2022
DeSanto-Shinawi syndrome due to WAC point mutation1May 2, 2022
Deafness dystonia syndrome4Nov 3, 2021
Dentin dysplasia type I1May 2, 2022
Dentinogenesis imperfecta type 31May 2, 2022
Developmental and epileptic encephalopathy 941May 6, 2025
Developmental and epileptic encephalopathy, 181May 2, 2022
Developmental and epileptic encephalopathy, 51May 2, 2022
Developmental and epileptic encephalopathy, 571May 2, 2022
Developmental and epileptic encephalopathy, 661May 2, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities2May 2, 2022
Diabetes insipidus, nephrogenic, X-linked1May 6, 2025
Diabetes insipidus, nephrogenic, autosomal1May 2, 2022
Dias-Logan syndrome1May 2, 2022
Diencephalic-mesencephalic junction dysplasia syndrome 11May 2, 2022
Distal arthrogryposis2May 2, 2022
Distal arthrogryposis type 5D1May 2, 2022
Dyskeratosis congenita2Nov 18, 2025
Dyskinesia with orofacial involvement, autosomal dominant1May 2, 2022
Dystonia 28, childhood-onset1May 2, 2022
Ehlers-Danlos syndrome due to tenascin-X deficiency1May 6, 2025
Ehlers-Danlos syndrome, classic type, 12May 6, 2025
Ehlers-Danlos syndrome, spondylodysplastic type, 12May 2, 2022
Ehlers-Danlos syndrome, type 42May 6, 2025
Epidermal nevus1Jul 2, 2025
Epilepsy with myoclonic atonic seizures1May 6, 2025
Episodic ataxia type 21Oct 5, 2022
Failure to thrive1May 2, 2022
Familial cancer of breast48Nov 18, 2025
Familial melanoma1Nov 18, 2025
Familial multiple polyposis syndrome1Jun 22, 2023
Familial thoracic aortic aneurysm and aortic dissection2May 6, 2025
Fanconi anemia3Nov 19, 2025
Feingold syndrome type 11May 2, 2022
Fraser syndrome 12May 2, 2022
GM3 synthase deficiency1May 2, 2022
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1May 6, 2025
Gabriele de Vries syndrome1May 2, 2022
Gastrointestinal stromal tumor2Mar 3, 2025
Genitopatellar syndrome1May 2, 2022
Genitourinary and/or brain malformation syndrome1May 2, 2022
Giant axonal neuropathy 11May 2, 2022
Gilbert syndrome2May 2, 2022
Global developmental delay4May 2, 2022
Glomuvenous malformation1May 6, 2025
Glycine encephalopathy 11Nov 18, 2025
Grange syndrome1May 2, 2022
Hajdu-Cheney syndrome1Jan 22, 2019
Hepatoblastoma1Jul 2, 2025
Hereditary cancer-predisposing syndrome53May 6, 2025
Hereditary diffuse gastric adenocarcinoma6May 6, 2025
Hereditary pheochromocytoma-paraganglioma18Mar 3, 2025
Hereditary spastic paraplegia 41May 6, 2025
Hermansky-Pudlak syndrome 11Jul 2, 2025
Hermansky-Pudlak syndrome 42Jul 2, 2025
Hermansky-Pudlak syndrome 91Jul 2, 2025
Hogue-Janssens syndrome 11May 2, 2022
Houge-Janssens syndrome 31May 2, 2022
Hurler syndrome1May 2, 2022
Hutchinson-Gilford syndrome1May 6, 2025
Hypercalcemia, infantile, 21May 2, 2022
Hypohidrotic X-linked ectodermal dysplasia1May 2, 2022
Hypomyelination and Congenital Cataract1May 2, 2022
Infantile cerebellar-retinal degeneration1May 2, 2022
Intellectual developmental disorder with autism and macrocephaly1May 2, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2May 2, 2022
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2May 2, 2022
Intellectual disability3May 2, 2022
Intellectual disability, X-linked 492May 2, 2022
Intellectual disability, X-linked 721May 2, 2022
Intellectual disability, X-linked syndromic, Turner type1May 2, 2022
Intellectual disability, X-linked, syndromic 331May 2, 2022
Intellectual disability, X-linked, syndromic, Houge type2May 2, 2022
Intellectual disability, X-linked, with panhypopituitarism1Oct 16, 2017
Intellectual disability, autosomal dominant 101May 2, 2022
Intellectual disability, autosomal dominant 221May 2, 2022
Intellectual disability, autosomal dominant 301May 2, 2022
Intellectual disability, autosomal dominant 411May 2, 2022
Intellectual disability, autosomal dominant 501May 2, 2022
Intellectual disability, autosomal dominant 511May 2, 2022
Intellectual disability, autosomal dominant 61May 2, 2022
Intellectual disability, autosomal recessive 271May 2, 2022
Intellectual disability, autosomal recessive 591May 2, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3May 2, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome2May 2, 2022
Isolated focal cortical dysplasia type II2May 6, 2025
Joubert syndrome 271May 2, 2022
KBG syndrome7May 2, 2022
Kabuki syndrome 11May 2, 2022
Kabuki syndrome 21May 2, 2022
Kleefstra syndrome 11May 2, 2022
Kleefstra syndrome 21May 2, 2022
Klippel-Feil syndrome 1, autosomal dominant1May 2, 2022
Landau-Kleffner syndrome1May 2, 2022
Large congenital melanocytic nevus1Jul 2, 2025
Lathosterolosis2May 2, 2022
Leber congenital amaurosis23Dec 5, 2018
Leber congenital amaurosis 11May 2, 2022
Lethal congenital contracture syndrome 72May 2, 2022
Leukoencephalopathy, progressive, infantile-onset, with or without deafness1May 2, 2022
Li-Fraumeni syndrome39Nov 18, 2025
Linear nevus sebaceous syndrome1Jul 2, 2025
Loeys-Dietz syndrome 21May 6, 2025
Loeys-Dietz syndrome 42May 6, 2025
Lui-Jee-Baron syndrome1May 6, 2025
Luscan-Lumish syndrome1May 2, 2022
Lynch syndrome51Nov 18, 2025
Macular dystrophy32Dec 5, 2018
Marfan syndrome3May 6, 2025
Matthew-Wood syndrome1May 2, 2022
Maturity-onset diabetes of the young type 11May 2, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1May 2, 2022
Melnick-Needles syndrome1May 2, 2022
Melorheostosis1Jul 2, 2025
Metachondromatosis1May 2, 2022
Microcephaly1May 2, 2022
Microcephaly 14, primary, autosomal recessive1May 2, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations2May 2, 2022
Microcephaly 5, primary, autosomal recessive1May 2, 2022
Microcephaly 7, primary, autosomal recessive2May 2, 2022
Microcephaly 9, primary, autosomal recessive1May 2, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1May 2, 2022
Microcephaly, short stature, and limb abnormalities1May 2, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1May 2, 2022
Mitochondrial complex 2 deficiency, nuclear type 43Mar 3, 2025
Mitochondrial complex I deficiency, nuclear type 372May 2, 2022
Mitochondrial complex I deficiency, nuclear type 42May 2, 2022
Mitochondrial disease1Mar 24, 2022
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency1Jan 13, 2021
Mowat-Wilson syndrome1Sep 1, 2023
Mucolipidosis type IV2May 2, 2022
Multiple acyl-CoA dehydrogenase deficiency2May 6, 2025
Multiple endocrine neoplasia, type 21Jul 2, 2025
Multiple epiphyseal dysplasia type 11May 2, 2022
Muscular dystrophy, limb-girdle, autosomal dominant 41May 6, 2020
Myopathy, tubular aggregate, 11May 2, 2022
Nemaline myopathy 21May 2, 2022
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome2May 2, 2022
Nephronophthisis 11May 2, 2022
Nephronophthisis 31May 2, 2022
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2May 2, 2022
Neurodevelopmental delay1May 2, 2022
Neurodevelopmental disorder with epilepsy and brain atrophy2May 6, 2025
Neurodevelopmental disorder with impaired speech and hyperkinetic movements2May 2, 2022
Neurodevelopmental disorder with or without autism or seizures1May 6, 2025
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1May 6, 2025
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1May 2, 2022
Neurofibromatosis, type 112Nov 18, 2025
Neuronopathy, distal hereditary motor, type 2B1Jul 2, 2025
Neuropathy, hereditary motor and sensory, type 6B2May 2, 2022
Noonan syndrome-like disorder with loose anagen hair 21Jul 2, 2025
Nystagmus1May 2, 2022
Oculocutaneous albinism type 111Jul 2, 2025
Oculocutaneous albinism type 62Jul 2, 2025
Oculofaciocardiodental syndrome1May 2, 2022
Osteogenesis imperfecta type I2May 6, 2025
PIK3CA related overgrowth syndrome1Nov 18, 2025
PTEN hamartoma tumor syndrome1Jun 22, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1May 2, 2022
Pachyonychia congenita 31Jul 2, 2025
Palmoplantar keratoderma i, striate, focal, or diffuse1Nov 18, 2025
Palmoplantar keratoderma, punctate type 1A1May 6, 2025
Parkinsonian-pyramidal syndrome1May 2, 2022
Patent ductus arteriosus1May 2, 2022
Patterned macular dystrophy 11Dec 5, 2018
Perrault syndrome 25May 20, 2019
Peutz-Jeghers syndrome25Jan 22, 2025
Pitt-Hopkins syndrome2May 2, 2022
Polycystic kidney disease 23Jul 2, 2025
Polycystic kidney disease 3 with or without polycystic liver disease1May 6, 2025
Polycystic kidney disease, adult type5May 6, 2025
Polydactyly, postaxial, type A12May 2, 2022
Porencephaly 22May 2, 2022
Progressive cone dystrophy (without rod involvement)13Dec 5, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11May 6, 2025
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31May 2, 2022
Progressive myoclonic epilepsy type 62Feb 16, 2021
Pseudohypoparathyroidism type I A1May 2, 2022
Pulmonary hypertension, primary, 11May 2, 2022
RASopathy1Jul 2, 2025
Rafiq syndrome1May 2, 2022
Rahman syndrome1May 2, 2022
Rauch-Steindl syndrome1May 2, 2022
Retinal dystrophy22Dec 5, 2018
Retinal vascular dystrophy1Dec 5, 2018
Retinitis pigmentosa287Oct 25, 2021
Retinitis pigmentosa 901May 2, 2022
Rett syndrome1May 2, 2022
Rhabdoid tumor predisposition syndrome 21Mar 3, 2025
Ritscher-Schinzel syndrome 21May 2, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations3May 2, 2022
SLC39A8-CDG2May 2, 2022
Sandhoff disease1May 2, 2022
Seizure4May 2, 2022
Sensory neuropathy1May 2, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1May 2, 2022
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 21May 2, 2022
Short stature-brachydactyly-obesity-global developmental delay syndrome1May 2, 2022
Shprintzen-Goldberg syndrome1May 2, 2022
Silver-Russell syndrome 31May 2, 2022
Silver-Russell syndrome 51May 2, 2022
Skraban-Deardorff syndrome1May 2, 2022
Smith-Magenis syndrome3May 2, 2022
Snijders blok-fisher syndrome1Oct 27, 2022
Spastic ataxia 10, autosomal recessive1May 6, 2025
Spastic hemiparesis1May 2, 2022
Spastic paraparesis1May 2, 2022
Spastic paraplegia 80, autosomal dominant1May 2, 2022
Spondyloepimetaphyseal dysplasia, Missouri type1May 2, 2022
Spondyloepiphyseal dysplasia, Stanescu type1May 2, 2022
Stankiewicz-Isidor syndrome1May 2, 2022
Stargardt disease51Dec 5, 2018
Steel syndrome1May 2, 2022
Syndromic X-linked intellectual disability 341May 2, 2022
Syndromic X-linked intellectual disability Claes-Jensen type1May 2, 2022
Telangiectasia, hereditary hemorrhagic, type 11Nov 18, 2025
Telangiectasia, hereditary hemorrhagic, type 21May 2, 2022
Tooth agenesis, selective, 71May 6, 2025
Townes-Brocks syndrome 13May 2, 2022
Tuberous sclerosis 21May 2, 2022
Tumor predisposition syndrome 36May 6, 2025
Tyrosinase-positive oculocutaneous albinism3Jul 2, 2025
Ullrich congenital muscular dystrophy 1A2Feb 15, 2023
Usher syndrome6Dec 5, 2018
VISS syndrome1Dec 13, 2024
Vascular Malformations and Overgrowth1Jun 13, 2022
Ventral hernia1May 2, 2022
Vici syndrome2May 2, 2022
Vitelliform macular dystrophy 211Dec 5, 2018
Vitreoretinopathy4Dec 5, 2018
Von Hippel-Lindau syndrome1Dec 13, 2024
Waardenburg syndrome type 17May 5, 2021
Werner syndrome1May 6, 2025
Wiedemann-Steiner syndrome3May 2, 2022
Wilms tumor 11Mar 3, 2025
Woodhouse-Sakati syndrome1May 2, 2022
X-linked Alport syndrome1May 2, 2022
X-linked intellectual disability Cabezas type1May 2, 2022
not provided7Dec 5, 2018