Undiagnosed Diseases Network (National Institutes of Health), UDN

General information

Undiagnosed Diseases Network, UDN
National Institutes of Health
Bethesda
Maryland
United States
http://undiagnosed.hms.harvard.edu
Organization ID: 505999

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 539

Gene

GeneSubmissionsLast Updated
ABCA22Mar 27, 2018
ABCD11Mar 27, 2018
ACOX12Sep 2, 2021
ACTG11Aug 24, 2020
ACVR11May 28, 2021
ADGRV11Sep 17, 2019
ADNP2Apr 23, 2020
ADSS11Jul 17, 2018
AFG3L21Mar 27, 2018
AGTPBP12May 29, 2019
AIFM11Nov 27, 2018
ALDH18A11Jul 17, 2018
ALG13Mar 27, 2018
ALG131Mar 27, 2018
ALMS11May 22, 2019
ALPK11Apr 23, 2020
AMER11Feb 21, 2019
ANTXR21Mar 27, 2018
AP4M11Apr 23, 2020
ARHGEF91Sep 17, 2019
ARID1B2Jul 17, 2018
ARMC92Feb 21, 2019
ARV11Mar 27, 2018
ARX1May 22, 2019
ASXL12Apr 23, 2020
ASXL21Aug 4, 2017
ASXL32May 22, 2019
ATP13A22Aug 24, 2020
ATP1A32May 22, 2019
ATP5F1D1Mar 27, 2018
ATP5PO1Aug 25, 2020
ATP6V1A1Jul 17, 2018
ATP7A1Apr 23, 2020
ATRX1Sep 2, 2021
AUTS22Apr 23, 2020
BAP11Dec 4, 2020
BCKDK2Nov 27, 2018
BICRA1Mar 3, 2021
BRAF1Mar 27, 2018
CACNA1A3May 22, 2019
CACNA1C2May 20, 2020
CACNA1E2May 20, 2020
CAMK2B1Mar 27, 2018
CAPN12Jul 17, 2018
CARMIL21May 20, 2020
CCDC1071Sep 2, 2021
CDH21Sep 17, 2019
CDK132May 22, 2019
CDK13-DT1May 22, 2019
CDK191May 20, 2020
CDKL52Aug 7, 2020
CFTR1Apr 23, 2020
CHD71May 28, 2021
CHKB2May 20, 2020
CHKB-CPT1B2May 20, 2020
CHRNA32Sep 17, 2019
CIT2Feb 21, 2019
CITED21Sep 17, 2019
CLASP13Apr 23, 2020
CLCN61May 28, 2021
CLCN71Mar 3, 2021
CLTC2May 20, 2020
CNTNAP11Mar 27, 2018
COG41May 29, 2019
COL1A11May 28, 2021
COL1A21May 22, 2019
COL2A12Dec 4, 2020
COL4A12Aug 24, 2020
COL5A21May 20, 2020
COL6A12Jul 17, 2018
COL7A12Mar 27, 2018
COLQ2May 20, 2020
COX202May 28, 2021
CREBBP1May 28, 2021
CRELD12Aug 24, 2020
CTNNB11Nov 27, 2018
CTNS2Apr 23, 2020
CTSA2Jun 8, 2020
DCX1Sep 2, 2021
DDC1Feb 21, 2019
DDX3X2Mar 3, 2021
DEGS11May 28, 2021
DES1Mar 27, 2018
DMD1May 22, 2019
DNAH112Jul 31, 2019
DNASE1L32May 28, 2021
DNM11Mar 3, 2021
DNM1L1Sep 2, 2021
DONSON2Mar 3, 2021
DROSHA1Sep 17, 2019
DSP1Sep 17, 2019
DYNC1H12Apr 15, 2019
DYRK1A1Nov 27, 2018
EBF31Jan 22, 2018
EED1Jul 17, 2018
EEF1A21Mar 27, 2018
EFL13May 29, 2019
EFTUD21Mar 27, 2018
EHMT12Dec 4, 2020
EIF2AK11Sep 17, 2019
EIF2AK22Sep 17, 2019
ELFN11Aug 24, 2020
ENG1Jan 22, 2018
EPG51Sep 2, 2021
ERCC42Mar 3, 2021
EVI51Mar 27, 2018
EZH11May 20, 2020
F51Sep 16, 2020
FA2H1Jul 17, 2018
FAM177A12Apr 23, 2020
FAS1Nov 27, 2018
FAT42Mar 27, 2018
FBN12Mar 3, 2021
FBXO111Sep 17, 2019
FCSK2May 22, 2019
FGF121Mar 27, 2018
FKRP2Mar 27, 2018
FLG3May 20, 2020
FOXG12May 28, 2021
GABRB21Jul 17, 2018
GABRG21May 22, 2019
GATA21Feb 21, 2019
GATAD2B2May 22, 2019
GBE12May 28, 2021
GCH11Mar 27, 2018
GDF111Mar 27, 2018
GFAP1May 29, 2019
GH-LCR3Apr 23, 2020
GJB21Jan 14, 2019
GLYR12Mar 27, 2018
GNAO11May 29, 2019
GNAQ1Mar 27, 2018
GNAS2Feb 21, 2019
GNB21May 20, 2020
GRIN2A1Mar 27, 2018
GRIN2B1May 22, 2019
GYG12Apr 23, 2020
H3-3A1Jul 17, 2018
HADHA2May 28, 2021
HDAC81Jul 17, 2018
HECW21Mar 27, 2018
HEPACAM1Mar 27, 2018
HGSNAT4Jun 8, 2020
HNRNPA11Apr 23, 2020
HNRNPK2Sep 17, 2019
HNRNPU-AS11May 28, 2021
HSPB81Jul 17, 2018
HTRA11May 20, 2020
HUWE11Nov 27, 2018
IFIH12Aug 24, 2020
IGHMBP22May 29, 2019
IKBKG1Mar 4, 2021
IL6ST3May 20, 2020
IQCB12Mar 27, 2018
IRAK1BP11May 22, 2019
IRAK42Mar 3, 2021
IRF2BPL6Mar 3, 2021
ITPA1Sep 17, 2019
ITPR11May 20, 2020
JAG11Jul 17, 2018
KANSL11Aug 24, 2020
KARS11May 28, 2021
KCNA21Sep 2, 2021
KCNC11Jul 17, 2018
KCNC21May 28, 2021
KCNMA11Nov 27, 2018
KCNMA1-AS11Nov 27, 2018
KCTD72Mar 27, 2018
KIF2A1Jul 17, 2018
KLF71Apr 23, 2020
KMT2A1Mar 27, 2018
KMT2B4May 28, 2021
KMT2C3Sep 2, 2021
KRAS1Dec 4, 2020
LAMA13Jul 17, 2018
LMNA2May 20, 2020
LONP11Feb 21, 2019
LZTR12May 22, 2019
MADD2Aug 24, 2020
MAGEL21Mar 27, 2018
MAP2K12May 28, 2021
MAP2K21Aug 24, 2020
MAPK8IP31Nov 27, 2018
MAST31May 28, 2021
MECP25Mar 3, 2021
MECR2Mar 27, 2018
MEF2C1Nov 27, 2018
MIPEP4Jul 17, 2018
MME1May 20, 2020
MORC22Sep 2, 2021
MPEG11Aug 24, 2020
MPV172Nov 27, 2018
MRE112May 22, 2019
MSL21May 22, 2019
MSTO14Apr 23, 2020
MT-TK1Aug 24, 2020
MT-TP1May 22, 2019
MT-TT1May 22, 2019
MTHFS2May 22, 2019
MTOR2Sep 17, 2019
MTSS21May 20, 2020
MVK1May 28, 2021
MYBPC11Mar 27, 2018
MYH21Feb 21, 2019
MYHAS1Feb 21, 2019
NACC11Jan 22, 2018
NADK21Mar 27, 2018
NAGLU2Mar 27, 2018
NALCN2Apr 23, 2020
NBEA1Feb 21, 2019
NF11Aug 24, 2020
NFKB21Aug 24, 2020
NLRP122May 20, 2020
NLRP31Mar 27, 2018
NOD22Mar 3, 2021
NPHP11Aug 4, 2017
NPHP3-ACAD114Jul 20, 2021
NR2F21Nov 27, 2018
NR5A11Aug 4, 2017
NRXN12Mar 27, 2018
NSD23May 20, 2020
NTNG22Mar 3, 2021
NTRK21Sep 17, 2019
NUBPL3May 28, 2021
NUDT21Jul 31, 2019
ODC11Aug 24, 2020
OPHN11Feb 21, 2019
OTUD42Aug 4, 2017
OTUD51May 28, 2021
P2RX5-TAX1BP31Nov 27, 2018
PEX11May 22, 2019
PEX11B2Aug 4, 2017
PEX62Nov 27, 2018
PHIP2Apr 23, 2020
PIEZO22Mar 27, 2018
PIGQ2Feb 21, 2019
PIK3CA1Sep 17, 2019
PIP5K1C2May 28, 2021
PKD11Jul 17, 2018
PLA2G62Jul 17, 2018
PMP222Nov 27, 2018
POC1A1May 28, 2021
POC51May 22, 2019
POGZ1May 28, 2021
POLG5Nov 27, 2018
POLR3A2Feb 21, 2019
POMP1May 22, 2019
PPM1D1Mar 3, 2021
PPP3CA1Mar 27, 2018
PQBP11May 20, 2020
PRELP1Jul 17, 2018
PRKAR1B1May 28, 2021
PRNP3Jul 31, 2019
PRUNE11Aug 24, 2020
PSEN11Mar 27, 2018
PSMD121May 22, 2019
PTCH11Mar 27, 2018
PTPN111Mar 27, 2018
PURA2Apr 23, 2020
PUS72Sep 17, 2019
PYROXD11Mar 27, 2018
QRICH11Jul 17, 2018
RAB33A1Nov 27, 2018
RAC31May 20, 2020
RAD511Mar 27, 2018
RAI11Mar 27, 2018
RARS22Mar 27, 2018
RERE1May 29, 2019
RHOBTB21Feb 21, 2019
RIC32Sep 17, 2019
RMRP2Sep 2, 2021
RNASEH2A1Nov 27, 2018
RNF21Dec 4, 2020
RNH12Dec 14, 2020
RNU4ATAC3Apr 23, 2020
ROGDI2Aug 4, 2017
RORA1Feb 21, 2019
RORA-AS11Feb 21, 2019
RPL131May 20, 2020
RPS6KA31Mar 27, 2018
SARS22Jul 30, 2019
SCARB21Aug 4, 2017
SCN1A1Sep 23, 2019
SCN2A1Mar 27, 2018
SCN4A3Apr 23, 2020
SCN8A1Feb 21, 2019
SDHD1Feb 18, 2020
SELENON3May 22, 2019
SEPSECS2Mar 27, 2018
SET1Apr 23, 2020
SGCA2Aug 24, 2020
SGSH2Aug 24, 2020
SLC12A21May 22, 2019
SLC20A24Feb 21, 2019
SLC25A421Nov 27, 2018
SLC25A462May 22, 2019
SLC35A21Oct 24, 2019
SLC38A82May 20, 2020
SLC52A32Aug 4, 2017
SMARCC21May 29, 2019
SMN11May 22, 2019
SMO1May 22, 2019
SNAPC42Mar 27, 2018
SNIP11May 22, 2019
SNORD1184Jun 8, 2020
SORD1Sep 2, 2021
SOX111Nov 27, 2018
SOX41Sep 2, 2021
SPATA52Jul 17, 2018
SPG112Mar 27, 2018
SPG72Nov 27, 2018
SPI11Mar 27, 2018
SPINK11May 28, 2021
SPOP1Aug 24, 2020
SPTBN12May 28, 2021
SPTBN21Sep 17, 2019
SRCAP1Mar 27, 2018
ST20-MTHFS2May 22, 2019
STIM11Mar 27, 2018
STRN41Mar 27, 2018
STX161Aug 24, 2020
STX16-NPEPL11Aug 24, 2020
STXBP12Feb 13, 2020
SYNE12May 28, 2021
SYNGAP12Apr 23, 2020
TANGO22Aug 4, 2017
TAX1BP32Nov 27, 2018
TBCK7Aug 24, 2020
TBX21May 29, 2019
TCF41Aug 24, 2020
TCIRG11Mar 3, 2021
TEK1Sep 17, 2019
TGFB11May 28, 2021
TMEM1074Jun 8, 2020
TMEM942May 29, 2019
TOMM701Apr 23, 2020
TONSL4May 22, 2019
TONSL-AS11May 22, 2019
TOP3A2Feb 21, 2019
TOR1AIP12Mar 27, 2018
TRAF71May 22, 2019
TRAPPC41May 20, 2020
TRIM81Jul 17, 2018
TRIP112May 22, 2019
TRIP121Mar 27, 2018
TSPEAR2Jul 17, 2018
TSPEAR-AS11Jul 17, 2018
TTN5Aug 24, 2020
TTN-AS13Feb 21, 2019
TUB2Sep 17, 2019
TUBB2A1May 28, 2021
TUBB4A2Dec 4, 2020
UBA54Jul 20, 2021
UBAP11Sep 17, 2019
UGP21Sep 2, 2021
UNC45A2Aug 24, 2020
UNC801Aug 4, 2017
USP71May 29, 2019
VAMP21Mar 3, 2021
VARS22Mar 27, 2018
WAC1Jul 17, 2018
WDR371Mar 3, 2021
WDR731Sep 17, 2019
WNT10A1May 28, 2021
WWOX2Aug 24, 2020
YARS21Sep 2, 2021
ZC4H23Aug 24, 2020
ZMPSTE241May 29, 2019
ZNF2921Mar 27, 2018

Condition

NameSubmissionsLast Updated
1p13.3 deletion syndrome1Jun 24, 2019
2,4-Dienoyl-CoA reductase deficiency1Mar 27, 2018
46,XX sex reversal 41Aug 4, 2017
ABCA2-related condition2Mar 27, 2018
ACOX1-related condition1Jul 17, 2018
ADGRV1-related myoclonic epilepsy1Sep 17, 2019
AGTPBP1-related condition2May 29, 2019
AIFM1-related hypomyelination with spondylometaphyseal dysplasia1Nov 27, 2018
ALG1-CDG3Mar 27, 2018
ARX-associated condition1May 22, 2019
ATP5PO-related disorder1Aug 25, 2020
AU-KLINE SYNDROME2Sep 17, 2019
Adrenoleukodystrophy1Mar 27, 2018
Adult polyglucosan body disease2May 28, 2021
Aicardi Goutieres syndrome 41Nov 27, 2018
Alagille syndrome 11Jul 17, 2018
Alexander Disease1May 29, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Sep 2, 2021
Alstrom syndrome1May 22, 2019
Alternating hemiplegia of childhood 21Mar 27, 2018
Alzheimer disease, type 31Mar 27, 2018
Amelocerebrohypohidrotic syndrome2Aug 4, 2017
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Feb 21, 2019
Arthrogryposis, distal, with impaired proprioception and touch2Mar 27, 2018
Ataxia-telangiectasia-like disorder 12May 22, 2019
Atrial septal defect 81Sep 17, 2019
Autistic disorder of childhood onset1May 22, 2019
Autoimmune lymphoproliferative syndrome1Nov 27, 2018
Autosomal dominant osteopetrosis 21Mar 3, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2D2Aug 24, 2020
Autosomal recessive osteopetrosis 11Mar 3, 2021
BAP1-associated neurodevelopmental disorder1Dec 4, 2020
BICRA-related condition1Mar 3, 2021
Bachmann-Bupp syndrome1Aug 24, 2020
Bainbridge-Ropers syndrome2May 22, 2019
Baraitser-Winter Syndrome 21Aug 24, 2020
Bethlem myopathy 12Jul 17, 2018
Bohring-Opitz syndrome2Apr 23, 2020
Brain small vessel disease 1 with or without ocular anomalies2Aug 24, 2020
Branched-chain keto acid dehydrogenase kinase deficiency2Nov 27, 2018
Brown-Vialetto-Van Laere syndrome 12Aug 4, 2017
CACNA1A-related condition2May 22, 2019
CACNA1C-related condition2May 20, 2020
CDH2-related condition1Sep 17, 2019
CDK19-related condition1May 20, 2020
CDKL5-related disorder1Apr 23, 2020
CHARGE association1May 28, 2021
CHRNA3-related condition2Sep 17, 2019
CRELD1-related condition2Aug 24, 2020
Capillary malformation1Mar 27, 2018
Cardiac, facial, and digital anomalies with developmental delay1May 22, 2019
Cardiofaciocutaneous syndrome 11Mar 27, 2018
Cardiofaciocutaneous syndrome 31Feb 21, 2019
Cardiofaciocutaneous syndrome 41Aug 24, 2020
Cerebellar ataxia1Mar 27, 2018
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1May 22, 2019
Cerebellar atrophy1Mar 27, 2018
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21May 20, 2020
Charcot-Marie-Tooth disease, axonal, type 2S2May 29, 2019
Charcot-Marie-Tooth disease, axonal, type 2T1May 20, 2020
Charcot-Marie-Tooth disease, type IA1Nov 27, 2018
Ciliary dyskinesia, primary, 72Jul 31, 2019
Coffin-Lowry syndrome1Mar 27, 2018
Coffin-Siris syndrome 12Jul 17, 2018
Coffin-Siris syndrome 101Sep 2, 2021
Cohen-Gibson syndrome1Jul 17, 2018
Combined deficiency of sialidase AND beta galactosidase2Jun 8, 2020
Combined oxidative phosphorylation deficiency 202Mar 27, 2018
Combined oxidative phosphorylation deficiency 314Jul 17, 2018
Common variable immunodeficiency 101Aug 24, 2020
Congenital disorder of glycosylation type 2J1May 29, 2019
Congenital disorder of glycosylation with defective fucosylation 22May 22, 2019
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2May 22, 2019
Congenital heart defects, multiple types, 41Nov 27, 2018
Congenital muscular dystrophy, LMNA-related1May 20, 2020
Congenital myopathy with fiber type disproportion3May 22, 2019
Congenital titinopathy2Aug 24, 2020
Cornelia de Lange syndrome 51Jul 17, 2018
Cortical dysplasia, complex, with other brain malformations 31Jul 17, 2018
Cortical dysplasia, complex, with other brain malformations 51May 28, 2021
Curry-Jones syndrome1May 22, 2019
Cystic fibrosis1Apr 23, 2020
DNM1L-related movement disorder1Sep 2, 2021
DONSON-related Meier-Gorlin syndrome2Mar 3, 2021
DROSHA-related neurodevelopmental disorder1Sep 17, 2019
DSP-related arrhythmogenic cardiomyopathy1Sep 17, 2019
Deafness, autosomal recessive 1A1Jan 14, 2019
Deafness-infertility syndrome1Nov 27, 2018
Decreased activity of mitochondrial ATP synthase complex1Mar 27, 2018
Deficiency of aromatic-L-amino-acid decarboxylase1Feb 21, 2019
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1Feb 21, 2019
Dermatitis, atopic1Feb 21, 2019
Dermatitis, atopic, 21May 20, 2020
Desanto-shinawi syndrome1Jul 17, 2018
Developmental and epileptic encephalopathy 911Mar 27, 2018
Developmental and epileptic encephalopathy 921Jul 17, 2018
Developmental and epileptic encephalopathy, 581Sep 17, 2019
Developmental and epileptic encephalopathy, 641Feb 21, 2019
Developmental and epileptic encephalopathy, 692May 20, 2020
Developmental and epileptic encephalopathy, 741May 22, 2019
Developmental and epileptic encephalopathy, 831Sep 2, 2021
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Sep 2, 2021
Developmental delay, intellectual disability, obesity, and dysmorphic features2Apr 23, 2020
Diaphyseal dysplasia1May 28, 2021
Diarrhea2Aug 24, 2020
Distal myopathy1Jul 17, 2018
Duchenne muscular dystrophy1May 22, 2019
Dystonia 28, childhood-onset4May 28, 2021
Dystonia 51Mar 27, 2018
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Mar 27, 2018
EIF2AK1-related condition1Sep 17, 2019
EIF2AK2-related condition2Sep 17, 2019
ELFN1-related condition1Aug 24, 2020
EVI5-related condition1Mar 27, 2018
EZH1-related disorder1May 20, 2020
Early infantile epileptic encephalopathy 131Feb 21, 2019
Early infantile epileptic encephalopathy 22Dec 17, 2020
Early infantile epileptic encephalopathy 42Feb 13, 2020
Early infantile epileptic encephalopathy 81Sep 17, 2019
Ehlers-Danlos syndrome classic type 21May 20, 2020
Eichsfeld type congenital muscular dystrophy3May 22, 2019
Endplate acetylcholinesterase deficiency2May 20, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation1Mar 27, 2018
Epilepsy, hearing loss, and mental retardation syndrome2Jul 17, 2018
Epilepsy, progressive myoclonic 32Mar 27, 2018
Epilepsy, progressive myoclonic 4, with or without renal failure1Aug 4, 2017
Epilepsy, progressive myoclonic 71Jul 17, 2018
Epileptic encephalopathy, early infantile, 282Aug 24, 2020
Epileptic encephalopathy, early infantile, 311Mar 3, 2021
Epileptic encephalopathy, early infantile, 321Sep 2, 2021
Epileptic encephalopathy, early infantile, 331Mar 27, 2018
Epileptic encephalopathy, early infantile, 351Sep 17, 2019
Epileptic encephalopathy, early infantile, 361Mar 27, 2018
Epileptic encephalopathy, early infantile, 381Mar 27, 2018
Epileptic encephalopathy, early infantile, 444Jul 20, 2021
Epileptic encephalopathy, early infantile, 471Mar 27, 2018
Epileptic encephalopathy, infantile or early childhood 31Jul 17, 2018
FAM177A1-related disorder2Apr 23, 2020
Familial cold autoinflammatory syndrome 11Mar 27, 2018
Familial cold autoinflammatory syndrome 22May 20, 2020
Fanconi anemia, complementation group R1Mar 27, 2018
Floating-Harbor syndrome1Mar 27, 2018
Focal cortical dysplasia type II1Sep 17, 2019
Foveal hypoplasia 22May 20, 2020
GDF11-associated multiple congenital anomalies and ID1Mar 27, 2018
GLYR1-related condition2Mar 27, 2018
GNB2-related condition1May 20, 2020
GP130-deficient hyper-IgE syndrome2Feb 21, 2019
Galloway-Mowat syndrome 11Sep 17, 2019
Generalized epilepsy with febrile seizures plus, type 21Sep 23, 2019
Gillespie syndrome1May 20, 2020
Glaucoma 3, primary congenital, E1Sep 17, 2019
Glycogen storage disease XV2Apr 23, 2020
Goldblatt syndrome2May 22, 2019
Gorlin syndrome1Mar 27, 2018
H3F3A-related condition1Jul 17, 2018
HNRNPA1-related multisystem proteinopathy1Apr 23, 2020
Helsmoortel-Van der Aa Syndrome2Apr 23, 2020
Hereditary hemorrhagic telangiectasia type 11Jan 22, 2018
Hereditary liability to pressure palsies1Jul 17, 2018
Hereditary pancreatitis1May 28, 2021
Hereditary spastic paraplegia 72Nov 27, 2018
Hereditary spastic paraplegia 9A1Jul 17, 2018
Hyaline fibromatosis syndrome1Mar 27, 2018
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1May 20, 2020
Hyperimmunoglobulin D with periodic fever1May 28, 2021
Hypokalemic periodic paralysis, type 21Apr 23, 2020
Hypomyelinating leukodystrophy 72Feb 21, 2019
Hypotonia, ataxia, and delayed development syndrome1Jan 22, 2018
Hypotonia, infantile, with psychomotor retardation and characteristic facies 12Apr 23, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Aug 4, 2017
Hypotonia, infantile, with psychomotor retardation and characteristic facies 37Aug 24, 2020
IFIH1-related immunodeficiency2Aug 24, 2020
IRF2BPL-related condition5May 29, 2019
Ichthyosis vulgaris2Apr 23, 2020
Idiopathic basal ganglia calcification 14Feb 21, 2019
Immunodeficiency 672Mar 3, 2021
Impaired Hearing2Aug 24, 2020
Increased susceptibility to fractures2Aug 24, 2020
Infantile neuroaxonal dystrophy2Jul 17, 2018
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature2Sep 17, 2019
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Sep 17, 2019
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 3, 2021
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Feb 21, 2019
Intellectual disability1Mar 27, 2018
Intellectual disability, X-linked syndromic, Turner type1Nov 27, 2018
Intellectual disability, autosomal dominant 541Mar 27, 2018
Intellectual disability, autosomal dominant 562May 20, 2020
Intellectual disability, autosomal dominant 581Apr 23, 2020
Joubert syndrome 302Feb 21, 2019
KARS1-related disorder1May 28, 2021
KCNC2-related disorder1May 28, 2021
KLF7-related disorder1Apr 23, 2020
KMT2C-related condition1Sep 17, 2019
KRAS-related RASopathy1Dec 4, 2020
Kilquist syndrome1May 22, 2019
Kleefstra syndrome 12Dec 4, 2020
Kleefstra syndrome 22Sep 2, 2021
Koolen-de Vries syndrome1Aug 24, 2020
Kufor-Rakeb syndrome2Aug 24, 2020
Kugelberg-Welander disease1May 22, 2019
LMNA-associated condition1Jul 31, 2019
LONP1-related condition1Feb 21, 2019
Lethal congenital contracture syndrome 71Mar 27, 2018
Lethal tight skin contracture syndrome1May 29, 2019
Leukodystrophy, hypomyelinating, 181May 28, 2021
Leukodystrophy, hypomyelinating, 62Dec 4, 2020
Leukoencephalopathy, brain calcifications, and cysts4Jun 8, 2020
Limb-girdle muscular dystrophy, type 2J3Feb 21, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C52Mar 27, 2018
Lissencephaly, X-linked1Sep 2, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency2May 28, 2021
MADD-related condition2Aug 24, 2020
MAP2K1-related rasopathy-like syndrome1May 28, 2021
MAPK8IP3-related disorder1Nov 27, 2018
MAST3-related disorder1May 28, 2021
MERRF syndrome1Aug 24, 2020
MORC2-related developmental disorder1Sep 17, 2019
MPEG1-related immunodeficiency1Aug 24, 2020
MPV17-related mitochondrial DNA maintenance defect2Nov 27, 2018
MSTO1-related disorder2Apr 23, 2020
MTOR-related megalencephaly and pigmentary mosaicism in skin1May 29, 2019
MTSS2-related neurodevelopmental disorder1May 20, 2020
MYBPC1-related condition1Mar 27, 2018
Mandibulofacial dysostosis-microcephaly syndrome1Mar 27, 2018
Marfan syndrome2Mar 3, 2021
Megaconial type congenital muscular dystrophy2May 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation1Mar 27, 2018
Megalencephaly-capillary malformation-polymicrogyria syndrome1Sep 17, 2019
Menkes kinky-hair syndrome1Apr 23, 2020
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Feb 21, 2019
Mental retardation, X-linked 1022Mar 3, 2021
Mental retardation, autosomal dominant 131Mar 27, 2018
Mental retardation, autosomal dominant 182May 22, 2019
Mental retardation, autosomal dominant 191Nov 27, 2018
Mental retardation, autosomal dominant 262Apr 23, 2020
Mental retardation, autosomal dominant 271Nov 27, 2018
Mental retardation, autosomal dominant 312Apr 23, 2020
Mental retardation, autosomal dominant 52Apr 23, 2020
Mental retardation, autosomal dominant 61May 22, 2019
Mental retardation, autosomal dominant 71Nov 27, 2018
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Nov 27, 2018
Metaphyseal chondrodysplasia, McKusick type2Sep 2, 2021
Microcephaly 17, primary, autosomal recessive2Feb 21, 2019
Mitchell syndrome1Sep 2, 2021
Mitochondrial DNA depletion syndrome2Jan 22, 2018
Mitochondrial complex 1 deficiency, nuclear type 213May 28, 2021
Mitochondrial complex 4 deficiency, nuclear type 112May 28, 2021
Mitochondrial diseases1May 22, 2019
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Mar 27, 2018
Motor neuropathy1Jul 17, 2018
Mucopolysaccharidosis, MPS-III-A2Aug 24, 2020
Mucopolysaccharidosis, MPS-III-B2Mar 27, 2018
Mucopolysaccharidosis, MPS-III-C4Jun 8, 2020
Multiple congenital anomalies-neurodevelopmental syndrome, x-linked1May 28, 2021
Muscular dystrophy, limb-girdle, type 2y2Mar 27, 2018
Myofibrillar myopathy 11Mar 27, 2018
Myopathy2Aug 4, 2017
Myopathy, distal, 51Jul 17, 2018
Myopathy, myofibrillar, 81Mar 27, 2018
Myopathy, proximal, and ophthalmoplegia1Feb 21, 2019
NBEA-related developmental delay and generalized epilepsy1Feb 21, 2019
NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS)1Mar 4, 2021
NSD2-related condition1Jul 30, 2019
NUDT2-associated condition1Jul 31, 2019
Nephronophthisis 11Aug 4, 2017
Nephropathic cystinosis2Apr 23, 2020
Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities1May 28, 2021
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia2Mar 3, 2021
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1Jan 22, 2018
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1May 20, 2020
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements1Mar 3, 2021
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Mar 27, 2018
Neurodevelopmental disorder with involuntary movements1May 29, 2019
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination2May 22, 2019
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Aug 24, 2020
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1May 29, 2019
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Mar 3, 2021
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1May 20, 2020
Neurofibromatosis, type 11Aug 24, 2020
Neurooculocardiogenitourinary syndrome1Mar 3, 2021
Noonan syndrome 11Mar 27, 2018
Noonan syndrome 22May 22, 2019
Novel PIP5K1C-related neurodevelopmental disorder2May 28, 2021
Osteogenesis imperfecta type I1May 28, 2021
Osteopathia striata with cranial sclerosis1Feb 21, 2019
PIGQ-related condition2Feb 21, 2019
POLG-related condition1Nov 27, 2018
PRELP-related osteosclerosis1Jul 17, 2018
PRKAR1B-related neurodevelopmental disorder1May 28, 2021
PRNP-associated condition1Jul 31, 2019
Paragangliomas 11Feb 18, 2020
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1Nov 27, 2018
Peroxisomal disorder1May 22, 2019
Peroxisome biogenesis disorder 14B2Aug 4, 2017
Peroxisome biogenesis disorder 4B2Nov 27, 2018
Pitt-Hopkins syndrome1Aug 24, 2020
Pitt-Hopkins-like syndrome 22Mar 27, 2018
Polycystic kidney disease, adult type1Jul 17, 2018
Pontocerebellar hypoplasia type 2D2Mar 27, 2018
Pontocerebellar hypoplasia type 62Mar 27, 2018
Poretti-Boltshauser syndrome3Jul 17, 2018
Predisposition to dissection2May 22, 2019
Primary progressive multiple sclerosis2Jan 22, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 52Feb 21, 2019
Progressive myositis ossificans1May 28, 2021
Progressive sclerosing poliodystrophy2Jul 17, 2018
Proteasome-associated autoinflammatory syndrome 21May 22, 2019
Pseudohypoparathyroidism1Feb 21, 2019
Pseudohypoparathyroidism type 1B1Aug 24, 2020
Pseudopseudohypoparathyroidism1Jul 17, 2018
RNF2-associated neurodevelopmental condition1Dec 4, 2020
RNH1-related condition2Dec 14, 2020
ROSAH syndrome1Apr 23, 2020
Recessive dystrophic epidermolysis bullosa2Mar 27, 2018
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Aug 4, 2017
Renpenning syndrome 11May 20, 2020
Retinal dystrophy and obesity2Sep 17, 2019
Rett syndrome5Mar 3, 2021
Rett syndrome, congenital variant2May 28, 2021
Roifman syndrome3Apr 23, 2020
Rubinstein-Taybi syndrome 11May 28, 2021
SARS2-associated condition2Jul 30, 2019
SCN2A-related condition1Mar 27, 2018
SLC25A42-related mitochondrial encephalomyopathy1Nov 27, 2018
SLC25A46-associated optic atrophy spectrum disorder2May 22, 2019
SLC35A2-CDG1Oct 24, 2019
SMARCC2-related condition1May 29, 2019
SNAPC4-associated inflammatory disease2Mar 27, 2018
SPI1-related eosinophilia syndrome1Mar 27, 2018
SPOP-related condition1Aug 24, 2020
SPTBN1-related condition1May 28, 2021
SPTBN1-related neurodevelopmental disease1Feb 21, 2019
Schaaf-Yang syndrome1Mar 27, 2018
Scoliosis1May 22, 2019
Senior-Loken syndrome 31Aug 4, 2017
Senior-Loken syndrome 52Mar 27, 2018
Severe combined immunodeficiency due to CARMIL2 deficiency1May 20, 2020
Shashi-Pena syndrome1Aug 4, 2017
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis1May 28, 2021
Shwachman-Diamond syndrome 23May 29, 2019
Smith-Magenis syndrome1Mar 27, 2018
Sorbitol dehydrogenase deficiency with peripheral neuropathy1Sep 2, 2021
Spastic paraplegia 11, autosomal recessive2Mar 27, 2018
Spastic paraplegia 351Jul 17, 2018
Spastic paraplegia 50, autosomal recessive1Apr 23, 2020
Spastic paraplegia 76, autosomal recessive2Jul 17, 2018
Spastic paraplegia 80, autosomal dominant1Sep 17, 2019
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Apr 15, 2019
Spinocerebellar ataxia type 281Mar 27, 2018
Spinocerebellar ataxia type 51Sep 17, 2019
Spinocerebellar ataxia, autosomal recessive 242Apr 30, 2020
Spinocerebellar ataxia, autosomal recessive 82May 28, 2021
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type1May 20, 2020
Spongiform encephalopathy with neuropsychiatric features2Aug 4, 2017
Stankiewicz-Isidor syndrome1May 22, 2019
Stickler syndrome type 12Dec 4, 2020
Stormorken syndrome1Mar 27, 2018
Sturge-Weber syndrome1Mar 27, 2018
Systemic lupus erythematosus1Jan 22, 2018
Systemic lupus erythematosus 162May 28, 2021
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy2Nov 27, 2018
TBX2-related condition1May 29, 2019
TMEM94-related condition2May 29, 2019
TOMM70-related neurodevelopmental disorder1Apr 23, 2020
TONSL-related condition4May 22, 2019
TRIM8-related epileptic encephalopathy1Jul 17, 2018
TRIP12 associated autism with facial dysmorphology1Mar 27, 2018
TSPEAR-related disorder of tooth and hair follicle morphogenesis2Jul 17, 2018
Thrombophilia due to factor V Leiden1Sep 16, 2020
Tooth agenesis, selective, 41May 28, 2021
UNC45A-associated Cholestasis2Aug 24, 2020
USP7-related condition1May 29, 2019
Van Maldergem syndrome 22Mar 27, 2018
Ververi-Brady syndrome1Jul 17, 2018
Vici syndrome1Sep 2, 2021
WHSC1 (NSD2)-related condition1May 22, 2019
White-sutton syndrome1May 28, 2021
Wieacker-Wolff syndrome2May 20, 2020
Wieacker-Wolff syndrome, female-restricted1Aug 24, 2020
Wiedemann-Steiner syndrome1Mar 27, 2018
Wolf-Hirschhorn like syndrome1May 20, 2020
Xeroderma pigmentosum, group F2Mar 3, 2021
Yao syndrome2Mar 3, 2021
ZNF292-related neurodevelopmental condition1Mar 27, 2018
not specified2Aug 4, 2017
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