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Institute of Human Genetics (Cologne University)

General information

Institute of Human Genetics
Cologne University
Kerpener Str. 34
Cologne
Nordrhein-Westfalen
Germany - 50931
http://humangenetik.uk-koeln.de/
Organization ID: 243629

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 537

Gene

GeneSubmissionsLast Updated
AARS14Jan 3, 2022
ACTA11May 11, 2018
ACTA23Apr 26, 2024
ACTN41Jun 6, 2017
ADAR1Sep 23, 2019
ADNP2Sep 24, 2024
ADPRS1Oct 2, 2020
AEBP11Dec 17, 2021
AFF21Dec 15, 2021
AGO11Jul 8, 2024
AGPAT21Jul 16, 2019
AGTPBP12Oct 2, 2020
AGXT1Apr 26, 2022
ALG11Mar 5, 2021
ANLN1Sep 4, 2020
AQP21Jun 8, 2017
AQP5-AS11Jun 8, 2017
ARHGEF102Nov 28, 2018
ARHGEF91Dec 29, 2020
ARID1B5Sep 20, 2021
ARSA1Oct 2, 2020
ARX1Dec 17, 2021
ASXL31Sep 15, 2023
ATAD3A1Dec 5, 2023
ATOH71May 22, 2023
ATP7A1May 11, 2018
AUTS21Jan 10, 2024
AVPR21Oct 24, 2016
B4GAT11Dec 5, 2023
BBS101Aug 19, 2019
BCL11A1Mar 30, 2020
BCOR1Dec 17, 2021
BICD21May 11, 2018
BMPR22Dec 17, 2021
C1GALT1C11Apr 1, 2022
C1R1Apr 26, 2024
C31Mar 5, 2021
CACNA1H1Sep 20, 2021
CAPN31Oct 18, 2017
CASR5Dec 17, 2021
CDK191May 29, 2024
CDK5RAP21Jan 30, 2023
CFH4Jan 10, 2024
CFTR2Oct 23, 2020
CFTR-AS11Aug 30, 2018
CHD1L1Apr 11, 2019
CHD41Sep 4, 2020
CHD75Dec 17, 2021
CHD81Dec 17, 2021
CHKB1Dec 17, 2021
CHKB-CPT1B1Dec 17, 2021
CHRNG1Jan 19, 2018
CHST31Oct 5, 2023
CLCN11May 11, 2018
CNOT12Sep 24, 2024
COL11A21Sep 28, 2020
COL12A12May 11, 2018
COL1A112Apr 18, 2023
COL1A211Jul 8, 2024
COL2A13Sep 15, 2023
COL3A12Sep 28, 2017
COL4A35Apr 25, 2022
COL4A410Apr 26, 2024
COL4A516Jul 8, 2024
COL5A12Aug 8, 2022
COL5A21Apr 2, 2020
COL6A11May 11, 2018
COL6A21May 11, 2018
COL6A31May 11, 2018
COL9A32Sep 24, 2024
CRTAP1Aug 2, 2017
CTNS3Mar 24, 2020
CTNS-AS11Mar 7, 2018
CUL31Apr 26, 2024
CYP24A11Nov 14, 2019
DHDDS1Dec 5, 2023
DHTKD12May 11, 2018
DLG41Dec 17, 2021
DNAAF31Dec 5, 2023
DNAAF3-AS11Dec 5, 2023
DNAI21Apr 18, 2023
DNAJB113May 29, 2024
DNM1L1Oct 2, 2020
DNMT3A1May 22, 2019
DOK71Dec 17, 2021
DSG12Apr 25, 2022
DSG1-AS12Apr 25, 2022
DYNC1H11Jul 8, 2024
DYRK1A1Jan 30, 2023
EBP1Apr 18, 2023
ECEL12Dec 4, 2018
ECHS11Oct 2, 2020
EEF2KMT1Mar 5, 2021
EFTUD22Apr 25, 2022
EGR21Oct 2, 2020
ENO31Jan 10, 2024
ERCC61Dec 11, 2018
ETFDH1May 11, 2018
EXOSC31Oct 2, 2020
EXT21Aug 8, 2022
EYA11Feb 14, 2020
EZH21Jul 16, 2019
FANCA3Jul 3, 2023
FARS21Dec 17, 2021
FAT11Sep 26, 2019
FBLN51May 11, 2018
FBN117May 29, 2024
FBXO111Dec 17, 2021
FBXO381May 11, 2018
FDXR1Oct 2, 2020
FH1Mar 9, 2020
FKBP101May 21, 2019
FKRP1Dec 29, 2017
FLCN2Feb 26, 2024
FUS2May 11, 2018
FXN1May 11, 2018
GAN1May 11, 2018
GARS13Dec 17, 2021
GBF14Aug 11, 2020
GDAP13May 11, 2018
GLS1Feb 26, 2024
GNA111Dec 5, 2019
GNAS1Mar 13, 2024
GNPTAB1Dec 6, 2018
GPR1431Feb 26, 2024
GREB1L1Dec 17, 2021
GRHPR1Dec 19, 2018
GRIN2A1Apr 18, 2023
GRIN2B1Sep 24, 2024
HINT11May 11, 2018
HIVEP21Aug 8, 2022
HNF1B2Jul 15, 2019
HNF4A1Sep 4, 2017
HNRNPK1May 12, 2021
HPRT11Aug 8, 2022
HSPB11May 11, 2018
HSPD11May 22, 2019
IFIH11Sep 23, 2019
IFT1401Dec 17, 2021
IGF1R1Apr 26, 2024
IGHMBP24May 11, 2018
INPPL11Nov 28, 2018
IPO81Dec 5, 2023
JAG12Jan 30, 2023
KCNH11Sep 4, 2019
KCNQ21Jul 8, 2024
KCNT21Jul 12, 2021
KIF1B1May 11, 2018
KIF26A1Jan 10, 2024
KIF5C2Jul 30, 2019
KMT2D3May 11, 2018
KMT2E18May 11, 2021
LAMA11Dec 17, 2021
LAMB21Jun 30, 2017
LDLR1Dec 17, 2021
LGI42May 11, 2018
LIFR2Feb 1, 2021
LMX1B4Dec 5, 2019
LOC1005073461Dec 17, 2021
LOC1019275211Dec 17, 2021
LOC1070327601Aug 8, 2022
LOC1073033401Mar 5, 2021
LOC1079822341Jun 8, 2017
LOC1268072551Sep 26, 2019
LOC1268596901Apr 26, 2024
LOC1268621241Sep 24, 2019
LOC1268622601Dec 17, 2021
LOC1268625861Dec 5, 2019
LOC1268632391Dec 17, 2021
LOC1299290471Aug 8, 2022
LOC1299303521Jul 4, 2019
LOC1299351841Oct 2, 2020
LOC1300598371Jul 3, 2023
LOC1320904971Nov 5, 2019
LRP22Apr 17, 2019
LRP51Mar 21, 2019
LZTR11Aug 9, 2018
MACF16Oct 2, 2020
MAGEL21Jan 11, 2019
MAP2K11Mar 30, 2020
MARS11May 11, 2018
MBD51Aug 28, 2020
MDFIC2Sep 24, 2024
MDH21Jul 8, 2024
MEF2C1May 22, 2023
MEN11Jun 3, 2020
MET1Jan 17, 2018
MFF-DT5Apr 25, 2022
MFN24May 11, 2018
MME1May 11, 2018
MMP212Jul 3, 2023
MORC21May 11, 2018
MPV171Oct 2, 2020
MPZ3Dec 17, 2021
MTMR21May 11, 2018
MTRFR1Oct 2, 2020
MYH31Jan 25, 2022
MYH71Feb 26, 2024
MYLK1Apr 5, 2017
NBAS1Dec 17, 2021
NDUFS61Oct 2, 2020
NEXMIF1Nov 2, 2020
NF13Jan 10, 2024
NFIX1Apr 18, 2023
NFKB12Dec 17, 2021
NIPBL1Jul 16, 2019
NLGN31Dec 15, 2021
NOTCH21Dec 19, 2018
NOTCH31Apr 18, 2023
NPHP31Jul 14, 2017
NPHP3-ACAD111Jul 14, 2017
NPR22May 22, 2023
NR3C21Apr 25, 2022
NUP931Sep 15, 2023
OBSCN1May 29, 2024
OCA21Nov 6, 2020
OSGEP1Jan 3, 2022
OTOG2Apr 26, 2024
P3H12Nov 2, 2022
P4HB1Jan 30, 2023
PACS21Dec 17, 2021
PAX61Dec 17, 2021
PAX81Dec 17, 2021
PAX8-AS11Dec 17, 2021
PBX11Sep 24, 2024
PCDH151Dec 3, 2021
PDGFA1Jul 10, 2024
PDXK1Oct 2, 2020
PEX261May 22, 2023
PGAP22Apr 25, 2022
PHEX2Feb 26, 2024
PHIP1Sep 24, 2024
PIEZO23Sep 15, 2023
PIGN1Nov 5, 2019
PKD123Sep 24, 2024
PKD1-AS12Jul 8, 2024
PKD27Feb 26, 2024
PKHD14Apr 26, 2024
PLCE11Apr 25, 2022
PLEKHG53May 11, 2018
PLOD21Jun 11, 2018
PLS31Aug 7, 2017
PNPLA82Dec 17, 2021
POGZ1Dec 17, 2021
POLG2Mar 20, 2024
POLGARF2Mar 20, 2024
PPARG1Jan 30, 2023
PPM1D1Sep 24, 2024
PRX2Dec 16, 2021
PTCH11Dec 17, 2021
PTCHD1-AS2Feb 26, 2024
PUF601May 22, 2023
RAF11Apr 25, 2023
RARB1Dec 17, 2021
ROBO41Dec 17, 2021
RORB1May 22, 2023
RUNX21Dec 16, 2021
SACS1May 11, 2018
SALL11Aug 8, 2022
SCN1A1Aug 8, 2022
SCN2A1Dec 5, 2023
SCN8A2Oct 17, 2023
SDHD1Nov 21, 2019
SEC24D2Dec 5, 2023
SEPSECS2Oct 2, 2020
SERPINF11Mar 21, 2019
SETD1A1Apr 25, 2022
SETX4Oct 2, 2020
SH3TC21Jul 24, 2019
SIN3A1May 22, 2023
SLC12A32Sep 6, 2017
SLC12A61May 11, 2018
SLC16A21Dec 15, 2021
SLC2A21May 31, 2017
SLC34A31Apr 25, 2022
SLC3A11Aug 10, 2017
SLC4A41Jun 11, 2018
SLC52A22May 11, 2018
SLC5A71May 11, 2018
SLC7A92Oct 17, 2023
SMAD34Dec 5, 2023
SMARCA21Oct 24, 2016
SMARCAL12Jan 7, 2019
SMN11Apr 2, 2020
SOD12May 11, 2018
SON1May 22, 2019
SPG111Oct 2, 2020
SPG72May 11, 2018
SRCAP1Jan 30, 2019
SRPK23May 11, 2021
STAT31Dec 17, 2021
STRC1Jul 8, 2024
SUCLA21Dec 17, 2021
SYNE11May 11, 2018
TAF81Oct 17, 2023
TAPBPL1May 11, 2018
TAPT11May 2, 2023
TCF201Sep 15, 2023
TCOF11Jul 8, 2024
TGFB22Aug 8, 2022
TGFBR11Dec 5, 2019
TGFBR21Apr 26, 2024
TGM51Dec 5, 2023
TIGD11Jan 19, 2018
TLK21Apr 6, 2021
TNNI31May 4, 2018
TRIO1May 22, 2023
TRPV42Nov 28, 2018
TSC25Jul 8, 2024
TSFM1Oct 17, 2023
TTN7Feb 26, 2024
TTN-AS17Feb 26, 2024
TUBA1A1Nov 30, 2018
TUBB31Jan 30, 2019
UBE3B1Jan 30, 2023
UMOD4Mar 5, 2021
UNC45B1Jan 10, 2024
USH1C2May 13, 2024
USH1G1Jan 30, 2023
VAMP11May 11, 2018
VCP1May 11, 2018
VHL2Mar 5, 2021
VPS13D2Oct 2, 2020
WAC1Jan 30, 2023
WDR192May 22, 2023
WNK41Feb 14, 2018
WNT11Sep 24, 2024
WT11Jun 8, 2017
ZFYVE262May 11, 2018
ZNF4691May 29, 2018

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria1May 11, 2018
8q24.3 microdeletion syndrome1May 22, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Sep 24, 2024
ALG1-congenital disorder of glycosylation1Mar 5, 2021
Abnormal long bone morphology1May 2, 2023
Abnormal protein O-linked glycosylation1Apr 1, 2022
Abnormality of the urinary system1Apr 11, 2019
Achondrogenesis type II1Sep 15, 2023
Acral peeling skin syndrome1Dec 5, 2023
Acromesomelic dysplasia 1, Maroteaux type2May 22, 2023
Adult-onset proximal spinal muscular atrophy, autosomal dominant1May 11, 2018
Aicardi-Goutieres syndrome 61Sep 23, 2019
Aicardi-Goutieres syndrome 71Sep 23, 2019
Alagille syndrome due to a JAG1 point mutation2Jan 30, 2023
Alagille syndrome due to a NOTCH2 point mutation1Dec 19, 2018
Allan-Herndon-Dudley syndrome1Dec 15, 2021
Alport syndrome4Dec 17, 2021
Amyotrophic lateral sclerosis type 12May 11, 2018
Amyotrophic lateral sclerosis type 41Oct 2, 2020
Amyotrophic lateral sclerosis type 61May 11, 2018
Aneurysm-osteoarthritis syndrome4Dec 5, 2023
Aniridia 11Dec 17, 2021
Aortic aneurysm, familial thoracic 63Apr 26, 2024
Aortic aneurysm, familial thoracic 71Apr 5, 2017
Aortic valve disease 31Dec 17, 2021
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect2May 11, 2018
Arthrogryposis, distal, with impaired proprioception and touch1May 11, 2018
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1Sep 15, 2023
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Dec 17, 2021
Atypical hemolytic-uremic syndrome with C3 anomaly1Mar 5, 2021
Au-Kline syndrome1May 12, 2021
Autism spectrum disorder due to AUTS2 deficiency1Jan 10, 2024
Autism, susceptibility to, X-linked 11Dec 15, 2021
Autosomal dominant Alport syndrome6Apr 25, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1May 11, 2018
Autosomal dominant intermediate Charcot-Marie-Tooth disease1May 11, 2018
Autosomal dominant pseudohypoaldosteronism type 11Apr 25, 2022
Autosomal dominant slowed nerve conduction velocity2Nov 28, 2018
Autosomal recessive Alport syndrome4Dec 30, 2020
Autosomal recessive ataxia, Beauce type1May 11, 2018
Autosomal recessive axonal hereditary motor and sensory neuropathy2May 11, 2018
Autosomal recessive axonal neuropathy with neuromyotonia1May 11, 2018
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Oct 2, 2020
Autosomal recessive distal spinal muscular atrophy 11May 11, 2018
Autosomal recessive hypophosphatemic bone disease1Apr 25, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A1Oct 18, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2I1Dec 29, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2J2Oct 2, 2020
Autosomal recessive nonsyndromic hearing loss 161Jul 8, 2024
Autosomal recessive nonsyndromic hearing loss 18A1Sep 15, 2023
Autosomal recessive nonsyndromic hearing loss 18B2Apr 26, 2024
Autosomal recessive polycystic kidney disease2Mar 9, 2020
Autosomal recessive proximal renal tubular acidosis1Jun 11, 2018
Bardet-Biedl syndrome 101Aug 19, 2019
Benign familial hematuria3Aug 8, 2022
Bethlem myopathy 1A2May 11, 2018
Birt-Hogg-Dube syndrome1Jul 28, 2017
Birt-Hogg-Dube syndrome 11Feb 26, 2024
Bone mineral density quantitative trait locus 181Aug 7, 2017
Branchiootorenal syndrome 11Feb 14, 2020
Brittle cornea syndrome 11May 29, 2018
Brown-Vialetto-van Laere syndrome 22May 11, 2018
Bruck syndrome 21Jun 11, 2018
CHARGE syndrome5Dec 17, 2021
Cardiofaciocutaneous syndrome 31Mar 30, 2020
Cardiomyopathy, familial restrictive, 11May 4, 2018
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Apr 18, 2023
Charcot-Marie-Tooth disease axonal type 2C1Nov 28, 2018
Charcot-Marie-Tooth disease axonal type 2N1May 11, 2018
Charcot-Marie-Tooth disease axonal type 2O1Jul 8, 2024
Charcot-Marie-Tooth disease axonal type 2Q1Dec 12, 2017
Charcot-Marie-Tooth disease axonal type 2S2May 11, 2018
Charcot-Marie-Tooth disease axonal type 2Z1May 11, 2018
Charcot-Marie-Tooth disease dominant intermediate D2Jul 6, 2020
Charcot-Marie-Tooth disease recessive intermediate A3May 11, 2018
Charcot-Marie-Tooth disease type 21May 11, 2018
Charcot-Marie-Tooth disease type 2A21May 11, 2018
Charcot-Marie-Tooth disease type 2D1Dec 17, 2021
Charcot-Marie-Tooth disease type 4B11May 11, 2018
Charcot-Marie-Tooth disease type 4C1Jul 24, 2019
Charcot-Marie-Tooth disease type 4E1Oct 2, 2020
Charcot-Marie-Tooth disease type 4F2Dec 16, 2021
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;3May 11, 2018
Charcot-Marie-Tooth disease, axonal, type 2EE1Oct 2, 2020
Charlevoix-Saguenay spastic ataxia1May 11, 2018
Chondrodysplasia punctata 2 X-linked dominant1Apr 18, 2023
Cleidocranial dysostosis1Dec 16, 2021
Cockayne syndrome type 21Dec 11, 2018
Coffin-Siris syndrome 15Sep 20, 2021
Cognitive impairment with or without cerebellar ataxia1Oct 17, 2023
Cole-Carpenter syndrome 11Jan 30, 2023
Cole-Carpenter syndrome 22Dec 5, 2023
Combined oxidative phosphorylation defect type 141Dec 17, 2021
Complex cortical dysplasia with other brain malformations 22Jul 30, 2019
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Sep 24, 2024
Congenital generalized lipodystrophy type 11Jul 16, 2019
Congenital myasthenic syndrome1May 11, 2018
Cornelia de Lange syndrome 11Jul 16, 2019
Cortical dysplasia, complex, with other brain malformations 111Jan 10, 2024
Cystic fibrosis2Oct 23, 2020
Cystinuria3Oct 17, 2023
DYRK1A-related intellectual disability syndrome1Jan 30, 2023
DeSanto-Shinawi syndrome due to WAC point mutation1Jan 30, 2023
Delayed gross motor development1Jul 10, 2024
Developmental and epileptic encephalopathy, 293Jan 3, 2022
Developmental and epileptic encephalopathy, 511Jul 8, 2024
Developmental and epileptic encephalopathy, 571Jul 12, 2021
Developmental and epileptic encephalopathy, 661Dec 17, 2021
Developmental and epileptic encephalopathy, 81Dec 29, 2020
Developmental and epileptic encephalopathy, 871May 29, 2024
Developmental delay and seizures with or without movement abnormalities1Dec 5, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities1Sep 15, 2023
Diabetes insipidus, nephrogenic, X-linked1Oct 24, 2016
Diabetes insipidus, nephrogenic, autosomal1Jun 8, 2017
Dias-Logan syndrome1Mar 30, 2020
Dilated cardiomyopathy 1G3Feb 26, 2024
Distal arthrogryposis type 5D2Dec 4, 2018
Distal spinal muscular atrophy9May 11, 2018
Donnai-Barrow syndrome2Apr 17, 2019
Early-onset myopathy with fatal cardiomyopathy1Jan 10, 2024
Ehlers-Danlos syndrome, classic type, 12Aug 8, 2022
Ehlers-Danlos syndrome, classic type, 21Apr 2, 2020
Ehlers-Danlos syndrome, classic-like, 21Dec 17, 2021
Ehlers-Danlos syndrome, periodontal type 11Apr 26, 2024
Ehlers-Danlos syndrome, type 41Aug 7, 2017
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Oct 2, 2020
Epilepsy, early-onset, with or without developmental delay1Apr 25, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151May 22, 2023
Epiphyseal dysplasia, multiple, 32Sep 24, 2024
Exostoses, multiple, type 21Aug 8, 2022
FRAXE1Dec 15, 2021
Familial X-linked hypophosphatemic vitamin D refractory rickets2Feb 26, 2024
Familial hypocalciuric hypercalcemia 14Jan 6, 2020
Familial hypocalciuric hypercalcemia 21Dec 5, 2019
Familial hypokalemia-hypomagnesemia2Sep 6, 2017
Familial juvenile hyperuricemic nephropathy type 14Mar 5, 2021
Fanconi anemia complementation group A3Jul 3, 2023
Fanconi-Bickel syndrome1May 31, 2017
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31Oct 17, 2023
Fetal akinesia deformation sequence 31Dec 17, 2021
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement1Jan 30, 2019
Finnish congenital nephrotic syndrome1Sep 26, 2019
Floating-Harbor syndrome1Jan 30, 2019
Focal segmental glomerulosclerosis 11Jun 6, 2017
Focal segmental glomerulosclerosis 81Sep 4, 2020
Freeman-Sheldon syndrome1Jan 25, 2022
Friedreich ataxia 11May 11, 2018
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61May 11, 2018
Galloway-Mowat syndrome 31Jan 3, 2022
Generalized epilepsy with febrile seizures plus, type 21Aug 8, 2022
Giant axonal neuropathy 11May 11, 2018
Glycogen storage disease due to muscle beta-enolase deficiency1Jan 10, 2024
Gorlin syndrome1Dec 17, 2021
Growth delay due to insulin-like growth factor I resistance1Apr 26, 2024
Harel-Yoon syndrome1Dec 5, 2023
Hematuria, benign familial, 11Apr 26, 2024
Hemolytic uremic syndrome, atypical, susceptibility to, 14Jan 10, 2024
Hepatic fibrosis1Jul 10, 2024
Hereditary leiomyomatosis and renal cell cancer1Mar 9, 2020
Hereditary spastic paraplegia 111Oct 2, 2020
Hereditary spastic paraplegia 131May 22, 2019
Hereditary spastic paraplegia 152May 11, 2018
Hereditary spastic paraplegia 551Oct 2, 2020
Heterotaxy, visceral, 7, autosomal2Jul 3, 2023
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Dec 17, 2021
Hyperaldosteronism, familial, type IV1Sep 20, 2021
Hypercalcemia, infantile, 11Nov 14, 2019
Hypercholesterolemia, familial, 11Dec 17, 2021
Hyperphosphatasia with intellectual disability syndrome 32Apr 25, 2022
Hypertrophic cardiomyopathy 91Dec 5, 2023
Hyperuricemic nephropathy, familial juvenile type 32Jul 15, 2019
Hypocalcemia1Dec 17, 2021
Hypothyroidism, congenital, nongoitrous, 21Dec 17, 2021
Immunodeficiency, common variable, 122Dec 17, 2021
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development1Feb 26, 2024
Infantile liver failure syndrome 21Dec 17, 2021
Intellectual developmental disorder with autism and macrocephaly1Dec 17, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Dec 17, 2021
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Sep 24, 2024
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1May 22, 2023
Intellectual disability3Dec 17, 2021
Intellectual disability, autosomal dominant 11Aug 28, 2020
Intellectual disability, autosomal dominant 201May 22, 2023
Intellectual disability, autosomal dominant 431Aug 8, 2022
Intellectual disability, autosomal dominant 571Apr 6, 2021
Intellectual disability, autosomal dominant 61Sep 24, 2024
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Dec 17, 2021
Kabuki syndrome 13May 11, 2018
Kugelberg-Welander disease1Apr 2, 2020
Landau-Kleffner syndrome1Apr 18, 2023
Lesch-Nyhan syndrome1Aug 8, 2022
Lethal multiple pterygium syndrome1Jan 19, 2018
Lissencephaly due to TUBA1A mutation1Nov 30, 2018
Loeys-Dietz syndrome 11Dec 5, 2019
Loeys-Dietz syndrome 21Apr 26, 2024
Loeys-Dietz syndrome 42Aug 8, 2022
Lymphatic malformation 122Sep 24, 2024
Malan overgrowth syndrome1Apr 18, 2023
Mandibulofacial dysostosis-microcephaly syndrome2Apr 25, 2022
Marfan syndrome17May 29, 2024
Maturity-onset diabetes of the young type 11Sep 4, 2017
Metachromatic leukodystrophy1Oct 2, 2020
Microcephaly 3, primary, autosomal recessive1Jan 30, 2023
Microphthalmia, syndromic 121Dec 17, 2021
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Dec 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 91Oct 2, 2020
Mitochondrial myopathy-lactic acidosis-deafness syndrome2Dec 17, 2021
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1Oct 2, 2020
Motor axonal neuropathy4Aug 11, 2020
Motor neuron disease2Dec 17, 2021
Mucolipidosis type II1Dec 6, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 11Nov 5, 2019
Multiple endocrine neoplasia, type 11Jun 3, 2020
Multiple epiphyseal dysplasia, Beighton type1Apr 6, 2021
Muscular dystrophy1Dec 17, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A131Dec 5, 2023
Myofibrillar myopathy 111Jan 10, 2024
Myosin storage myopathy1Feb 26, 2024
Nail-patella syndrome4Dec 5, 2019
Nephronophthisis 31Jul 14, 2017
Nephropathic cystinosis2Dec 19, 2018
Nephrotic syndrome, type 121Sep 15, 2023
Nephrotic syndrome, type 31Apr 25, 2022
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Oct 2, 2020
Neurodegeneration, childhood-onset, with cerebellar atrophy2Oct 2, 2020
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures1Jul 8, 2024
Neurodevelopmental disorder with or without autism or seizures1Apr 26, 2024
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy1Oct 17, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Apr 25, 2022
Neurofibromatosis, type 13Jan 10, 2024
Neuronopathy, distal hereditary motor, autosomal dominant 81May 11, 2018
Neuronopathy, distal hereditary motor, autosomal recessive1May 11, 2018
Neuronopathy, distal hereditary motor, autosomal recessive 41May 11, 2018
Neuronopathy, distal hereditary motor, type 2B1May 11, 2018
Neuronopathy, distal hereditary motor, type 5A1May 11, 2018
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy1Oct 2, 2020
Nicolaides-Baraitser syndrome1Oct 24, 2016
Noonan syndrome 101Aug 9, 2018
Noonan syndrome 51Apr 25, 2023
O'Donnell-Luria-Rodan syndrome17May 11, 2021
Ocular albinism, type I1Feb 26, 2024
Ocular cystinosis1Mar 24, 2020
Oculocerebrofacial syndrome, Kaufman type1Jan 30, 2023
Oculofaciocardiodental syndrome1Dec 17, 2021
Opsismodysplasia1Nov 28, 2018
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome1Oct 2, 2020
Osteogenesis imperfecta6Dec 17, 2021
Osteogenesis imperfecta type 111May 21, 2019
Osteogenesis imperfecta type 151Sep 24, 2024
Osteogenesis imperfecta type 61Mar 21, 2019
Osteogenesis imperfecta type 71Aug 2, 2017
Osteogenesis imperfecta type 82Nov 2, 2022
Osteogenesis imperfecta type I9Jun 9, 2020
Osteogenesis imperfecta with normal sclerae, dominant form2Jul 8, 2024
Osteogenesis imperfecta, perinatal lethal6Jul 8, 2024
Otospondylomegaepiphyseal dysplasia, autosomal recessive1Sep 28, 2020
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Sep 24, 2024
PPARG-related familial partial lipodystrophy1Jan 30, 2023
Papillary renal cell carcinoma type 11Jan 17, 2018
Partington syndrome1Dec 17, 2021
Peroxisome biogenesis disorder 7A (Zellweger)1May 22, 2023
Persistent hyperplastic primary vitreous, autosomal recessive1May 22, 2023
Pheochromocytoma1Nov 21, 2019
Pierson syndrome1Jun 30, 2017
Polycystic kidney disease 27Feb 26, 2024
Polycystic kidney disease 42Apr 26, 2024
Polycystic kidney disease 6 with or without polycystic liver disease3May 29, 2024
Polycystic kidney disease, adult type23Sep 24, 2024
Pontocerebellar hypoplasia type 1B1Oct 2, 2020
Pontocerebellar hypoplasia type 2D2Oct 2, 2020
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal1Dec 5, 2023
Postmenopausal osteoporosis1Mar 21, 2019
Primary ciliary dyskinesia 21Dec 5, 2023
Primary ciliary dyskinesia 91Apr 18, 2023
Primary hyperoxaluria, type I1Apr 26, 2022
Primary hyperoxaluria, type II1Dec 19, 2018
Progressive scapulohumeroperoneal distal myopathy1May 11, 2018
Proximal spinal muscular atrophy3May 11, 2018
Pseudohypoaldosteronism type 2B1Feb 14, 2018
Pseudohypoparathyroidism type I A1Mar 13, 2024
Pulmonary venoocclusive disease 12Dec 17, 2021
Recurrent fractures1May 2, 2023
Reduced bone mineral density1May 2, 2023
Renal hypodysplasia/aplasia 31Dec 17, 2021
Rhabdomyolysis, susceptibility to, 11May 29, 2024
SIN3A-related intellectual disability syndrome due to a point mutation1May 22, 2023
Saldino-Mainzer syndrome1Dec 17, 2021
Schaaf-Yang syndrome1Jan 11, 2019
Schimke immuno-osseous dysplasia2Jan 7, 2019
Scoliosis1May 2, 2023
Seizures, benign familial infantile, 31Dec 5, 2023
Seizures, benign familial infantile, 51Apr 18, 2023
Seizures, benign familial neonatal, 11Jul 8, 2024
Senior-Loken syndrome 82May 22, 2023
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis2Mar 20, 2024
Severe dermatitis-multiple allergies-metabolic wasting syndrome2Apr 25, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Sep 15, 2023
Short stature1May 2, 2023
Sifrim-Hitz-Weiss syndrome1Sep 4, 2020
Spectraplakinopathy type I6Oct 2, 2020
Spinal muscular atrophy, facioscapulohumeral type1May 11, 2018
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21May 11, 2018
Splenomegaly1Jul 10, 2024
Spondyloepiphyseal dysplasia with congenital joint dislocations1Oct 5, 2023
Stickler syndrome, type I, nonsyndromic ocular1Jul 12, 2021
Stuve-Wiedemann syndrome2Feb 1, 2021
Tatton-Brown-Rahman overgrowth syndrome1May 22, 2019
Temple-Baraitser syndrome1Sep 4, 2019
Townes-Brocks syndrome 11Aug 8, 2022
Treacher Collins syndrome 11Jul 8, 2024
Tuberous sclerosis 24Jul 8, 2024
Tyrosinase-positive oculocutaneous albinism1Nov 6, 2020
Ullrich congenital muscular dystrophy 21May 11, 2018
Usher syndrome type 1C1May 13, 2024
Usher syndrome type 1F1Dec 3, 2021
Usher syndrome type 1G1Jan 30, 2023
VISS syndrome1Dec 5, 2023
Vissers-Bodmer syndrome2Sep 24, 2024
Von Hippel-Lindau syndrome2Mar 5, 2021
Weaver syndrome1Jul 16, 2019
Wilms tumor 11Jun 8, 2017
X-linked Alport syndrome13Jul 8, 2024
X-linked distal spinal muscular atrophy type 31May 11, 2018
X-linked intellectual disability, Cantagrel type1Nov 2, 2020
ZTTK syndrome1May 22, 2019
autosomal recessive PIEZO2 associated disease1Oct 24, 2016
not specified1Sep 28, 2017