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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: 765

Gene

GeneSubmissionsLast Updated
ABCA22Mar 27, 2018
ABCD11Mar 27, 2018
ACADM2Jan 19, 2024
ACOX12Jan 3, 2024
ACTA11Apr 5, 2024
ACTG11Oct 28, 2021
ACVR11May 28, 2021
ADCY21Apr 5, 2024
ADCY51Jan 19, 2024
ADGRV11Sep 17, 2019
ADNP2Apr 23, 2020
ADSS11Jul 17, 2018
AFG2A2Jul 17, 2018
AFG2B2Jan 19, 2024
AFG3L23Jan 4, 2023
AGRN2Apr 5, 2024
AGTPBP12May 29, 2019
AHDC11Dec 3, 2021
AIFM12Dec 3, 2021
AIRE1Apr 5, 2024
ALDH18A11Jul 17, 2018
ALG13Mar 27, 2018
ALG131Mar 27, 2018
ALMS11May 22, 2019
ALPK11Apr 23, 2020
ALPL3Jan 19, 2024
AMER11Feb 21, 2019
ANK32Aug 18, 2022
ANTXR21Mar 27, 2018
ANXA111Apr 5, 2024
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
ATAD3A1May 26, 2022
ATL31Apr 5, 2024
ATM1Apr 5, 2024
ATP13A24Jan 4, 2023
ATP1A32May 22, 2019
ATP5F1A2May 26, 2022
ATP5F1D1Mar 27, 2018
ATP5PO1Aug 25, 2020
ATP6V0A11Jan 19, 2024
ATP6V1A1Jul 17, 2018
ATP7A1Apr 23, 2020
ATRX1Sep 2, 2021
AUTS22Apr 23, 2020
AXIN21Aug 18, 2022
BAP11Dec 4, 2020
BARD11Feb 23, 2022
BCKDK2Nov 27, 2018
BICRA1Mar 3, 2021
BLK1Apr 5, 2024
BRAF1Mar 27, 2018
C11orf651Apr 5, 2024
C12orf572Jan 4, 2023
CACNA1A3May 22, 2019
CACNA1C2May 20, 2020
CACNA1D1Jan 19, 2024
CACNA1E2May 20, 2020
CADM31Apr 12, 2023
CADM3-AS11Apr 12, 2023
CAMK2B2Jan 19, 2024
CAPN12Jul 17, 2018
CAPN151Jan 4, 2023
CARMIL21May 20, 2020
CARMN1Aug 18, 2022
CCDC1071Sep 2, 2021
CCDST3May 20, 2020
CDC452Apr 5, 2024
CDH11May 26, 2022
CDH21Sep 17, 2019
CDK132May 22, 2019
CDK13-DT1May 22, 2019
CDK191May 20, 2020
CDK81Jan 4, 2023
CDKL54Sep 7, 2022
CFTR5May 26, 2022
CHD31Jan 19, 2024
CHD72Aug 18, 2022
CHKB2May 20, 2020
CHKB-CPT1B2May 20, 2020
CHRNA32Sep 17, 2019
CIT2Feb 21, 2019
CITED21Sep 17, 2019
CLASP17Apr 12, 2023
CLCN61May 28, 2021
CLCN71Mar 3, 2021
CLPP2Apr 5, 2024
CLTC2May 20, 2020
CNTNAP11Mar 27, 2018
COG41May 29, 2019
COL1A11May 28, 2021
COL1A21May 22, 2019
COL2A12Dec 4, 2020
COL4A13Feb 23, 2022
COL5A21May 20, 2020
COL6A12Jul 17, 2018
COL7A12Mar 27, 2018
COLQ2May 20, 2020
COPB22Dec 3, 2021
COX202May 28, 2021
CPSF33Apr 5, 2024
CREBBP1May 28, 2021
CRELD12Aug 24, 2020
CTNNA11Jan 4, 2023
CTNNB11Nov 27, 2018
CTNS2Apr 23, 2020
CTNS-AS11Apr 23, 2020
CTSA2Jun 8, 2020
DAGLA1Jun 6, 2023
DCX1Sep 2, 2021
DDC1Feb 21, 2019
DDX3X2Mar 3, 2021
DEGS11May 28, 2021
DES1Mar 27, 2018
DHX91Jun 6, 2023
DLAT1Apr 5, 2024
DMD1May 22, 2019
DNAH114Apr 5, 2024
DNASE1L32May 28, 2021
DNM11Mar 3, 2021
DNM1L1Sep 2, 2021
DOHH1Apr 12, 2023
DONSON2Mar 3, 2021
DPH11Jan 19, 2024
DPH52Jan 19, 2024
DROSHA1Sep 17, 2019
DSP1Sep 17, 2019
DYNC1H13Aug 18, 2022
DYRK1A1Nov 27, 2018
EBF32Jan 19, 2024
EED1Jul 17, 2018
EEF1A21Mar 27, 2018
EFCAB101Dec 3, 2021
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
EZH11Apr 19, 2024
F51Sep 16, 2020
FA2H1Jul 17, 2018
FAM177A12Apr 23, 2020
FAS1Apr 19, 2024
FAT42Mar 27, 2018
FBN12Mar 3, 2021
FBN21Jan 19, 2024
FBXO111Sep 17, 2019
FCSK2May 22, 2019
FGF121Mar 27, 2018
FITM22Jan 19, 2024
FKRP2Mar 27, 2018
FLG3May 20, 2020
FLNA1Feb 23, 2022
FOXG12May 28, 2021
GABRA31Dec 3, 2021
GABRB21Jul 17, 2018
GABRG21May 22, 2019
GATA21Feb 21, 2019
GATAD2B2May 22, 2019
GBE12May 28, 2021
GCH11Mar 27, 2018
GDF112Feb 23, 2022
GET41Dec 3, 2021
GFAP1May 29, 2019
GH-LCR3Apr 23, 2020
GJB21Jan 14, 2019
GLUL1Dec 3, 2021
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
H4C51Apr 12, 2023
HADHA2May 28, 2021
HCFC11May 26, 2022
HDAC81Jul 17, 2018
HECW21Mar 27, 2018
HEPACAM2Apr 5, 2024
HGSNAT4Jun 8, 2020
HNRNPA11Apr 23, 2020
HNRNPK2Sep 17, 2019
HNRNPK-AS11Mar 27, 2018
HSPB81Jul 17, 2018
HTRA11May 20, 2020
HUWE11Nov 27, 2018
IFIH12Aug 24, 2020
IGHMBP22May 29, 2019
IKBKG2Apr 5, 2024
IKZF31Apr 5, 2024
IL6ST3May 20, 2020
IQCB12Mar 27, 2018
IQGAP11Sep 13, 2022
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
KDR1Jan 19, 2024
KIF1A1Apr 5, 2024
KIF21A1Apr 12, 2023
KIF2A1Jul 17, 2018
KIF5B1Sep 21, 2023
KLF71Apr 23, 2020
KMT2A1Mar 27, 2018
KMT2B4May 28, 2021
KMT2C3Sep 2, 2021
KMT2D1May 26, 2022
KRAS1Dec 4, 2020
LAMA13Jul 17, 2018
LARP72Aug 18, 2022
LMNA2May 20, 2020
LMNB11Feb 23, 2022
LOC1066943161Jan 19, 2024
LOC1266533511Aug 25, 2020
LOC1266533981Jul 17, 2018
LOC1268057041May 22, 2019
LOC1268599612Apr 5, 2024
LOC1268632531Apr 12, 2023
LOC1299312991May 26, 2022
LOC1299329121May 28, 2021
LOC1299938011Mar 27, 2018
LOC1300045991Aug 24, 2020
LOC1300053681Jan 19, 2024
LOC1300593941Jul 17, 2018
LOC1300607811Apr 5, 2024
LOC1300611521May 28, 2021
LOC1300619281May 26, 2022
LOC1300647751Mar 27, 2018
LONP11Feb 21, 2019
LRCH21Jan 4, 2023
LRP61Feb 23, 2022
LRRC37A21Apr 5, 2024
LZTR12May 22, 2019
MADD2Aug 24, 2020
MAGEL21Mar 27, 2018
MAGT11Dec 3, 2021
MAP2K12May 28, 2021
MAP2K21Aug 24, 2020
MAP3K201Dec 3, 2021
MAP3K20-AS11Dec 3, 2021
MAP42Jan 4, 2023
MAPK8IP31Nov 27, 2018
MAST31May 28, 2021
MBD51Jan 4, 2023
MCCC21Jan 19, 2024
MECP25Mar 3, 2021
MECR2Mar 27, 2018
MED121Feb 23, 2022
MED12L1Jan 19, 2024
MEF2C1Nov 27, 2018
MFN21Aug 18, 2022
MIPEP4Jul 17, 2018
MIR1451Aug 18, 2022
MIR302CHG1Aug 18, 2022
MME1May 20, 2020
MORC22Sep 2, 2021
MPEG11Aug 24, 2020
MPO2Jan 19, 2024
MPV172Nov 27, 2018
MRE112May 22, 2019
MRPS341Jun 6, 2023
MSH61Sep 17, 2019
MSL21May 22, 2019
MSTO12Mar 27, 2018
MT-ATP61Apr 5, 2024
MT-ND11May 26, 2022
MT-TF1Aug 18, 2022
MT-TI1Apr 12, 2023
MT-TK2Jan 19, 2024
MT-TP1May 22, 2019
MT-TT1May 22, 2019
MTHFS2May 22, 2019
MTMR81Jan 4, 2023
MTOR3Apr 5, 2024
MTSS21May 20, 2020
MVK1May 28, 2021
MYBPC11Mar 27, 2018
MYCBP21Jun 6, 2023
MYH21Feb 21, 2019
MYHAS1Feb 21, 2019
NAA101Jan 4, 2023
NACC11Jan 22, 2018
NADK21Mar 27, 2018
NAGLU2Mar 27, 2018
NALCN2Apr 23, 2020
NARS11Jun 6, 2023
NAV22May 26, 2022
NBAS2Aug 18, 2022
NBEA1Feb 21, 2019
NDUFAF82May 26, 2022
NEUROD21Dec 3, 2021
NEUROG32Jan 4, 2023
NF11Aug 24, 2020
NFIX1Jun 6, 2023
NFKB21Aug 24, 2020
NHERF11Jan 19, 2024
NLRP122May 20, 2020
NLRP31Mar 27, 2018
NOD22Mar 3, 2021
NOTCH11Jan 19, 2024
NPC11Dec 3, 2021
NPHP11Aug 4, 2017
NPHP3-ACAD114Jul 20, 2021
NR2F21Nov 27, 2018
NR5A11Aug 4, 2017
NSD24Jan 19, 2024
NSF1Apr 5, 2024
NTNG22Mar 3, 2021
NTRK21Sep 17, 2019
NUBPL3May 28, 2021
NUDT21Jul 31, 2019
ODC11Aug 24, 2020
OPHN11Feb 21, 2019
ORC32Apr 5, 2024
OTUD42Aug 4, 2017
OTUD51May 28, 2021
P2RX5-TAX1BP31Nov 27, 2018
P2RY121Jan 19, 2024
PAH2Apr 12, 2023
PAPSS12Jun 6, 2023
PARN1Apr 5, 2024
PDGFB1May 26, 2022
PDHA11Jan 4, 2023
PERM11Apr 5, 2024
PEX11May 22, 2019
PEX11B2Aug 4, 2017
PEX62Nov 27, 2018
PHACTR11May 26, 2022
PHIP2Apr 23, 2020
PI4KA2Apr 12, 2023
PIEZO22Mar 27, 2018
PIGN2Apr 12, 2023
PIGQ2Feb 21, 2019
PIK3CA1Sep 17, 2019
PIP5K1C2Apr 19, 2024
PKD11Jul 17, 2018
PLA2G64Apr 12, 2023
PLS31Jan 4, 2023
PLXND12Jan 4, 2023
PMP222Nov 27, 2018
POC1A1May 28, 2021
POC51May 22, 2019
POGZ1May 28, 2021
POLG5Nov 27, 2018
POLGARF5Nov 27, 2018
POLR3A4Apr 5, 2024
POLR3B4Apr 12, 2023
POMP1May 22, 2019
PPFIA31Jan 19, 2024
PPM1D1Mar 3, 2021
PPP2R1A1Apr 12, 2023
PPP3CA1Mar 27, 2018
PPP5C1Jan 19, 2024
PQBP11May 20, 2020
PRDM161Jan 19, 2024
PRELP1Jul 17, 2018
PRKAR1B1May 28, 2021
PRNP3Jul 31, 2019
PRPS11Apr 5, 2024
PRUNE11Aug 24, 2020
PSEN11Mar 27, 2018
PSMD121May 22, 2019
PSTPIP11Jan 4, 2023
PTCH12Dec 3, 2021
PTPN111Mar 27, 2018
PURA2Apr 23, 2020
PUS72Sep 17, 2019
PYROXD11Mar 27, 2018
QRICH11Jul 17, 2018
RAB33A2Dec 3, 2021
RAB5B1Feb 23, 2022
RAB5C1Feb 23, 2022
RAC31May 20, 2020
RAD511Mar 27, 2018
RAI11Mar 27, 2018
RANGAP11Apr 5, 2024
RAPGEFL11Apr 12, 2023
RARS22Mar 27, 2018
RBM282Jan 19, 2024
RBMXL31Jan 4, 2023
RERE1May 29, 2019
RFC11Aug 18, 2022
RHOA1Apr 5, 2024
RHOBTB21Feb 21, 2019
RIC32Sep 17, 2019
RINT12Dec 3, 2021
RMRP2Sep 2, 2021
RNASEH2A1Nov 27, 2018
RNF131Jan 4, 2023
RNF21Dec 4, 2020
RNH12Dec 14, 2020
RNU4ATAC7Apr 12, 2023
RNU7-12Jan 4, 2023
ROGDI2Aug 4, 2017
RORA1Feb 21, 2019
RORA-AS11Feb 21, 2019
RPA11Dec 3, 2021
RPL131May 20, 2020
RPS6KA31Mar 27, 2018
RRAGD2Apr 5, 2024
RRAS21Jan 19, 2024
SAMD91Apr 5, 2024
SARS22Jul 30, 2019
SCARB21Aug 4, 2017
SCN1A1Sep 23, 2019
SCN2A1Mar 27, 2018
SCN4A3Apr 23, 2020
SCN8A1Feb 21, 2019
SDHA2Jan 4, 2023
SDHD1Feb 18, 2020
SELENON3May 22, 2019
SEPHS11Apr 5, 2024
SEPSECS2Mar 27, 2018
SERPINA11Feb 23, 2022
SET2May 26, 2022
SETD51Dec 3, 2021
SGCA2Aug 24, 2020
SGSH2Aug 24, 2020
SLC12A21May 22, 2019
SLC17A52Apr 5, 2024
SLC20A24Feb 21, 2019
SLC25A421Nov 27, 2018
SLC25A462May 22, 2019
SLC26A111Aug 24, 2020
SLC30A71Jan 19, 2024
SLC35A21Oct 24, 2019
SLC38A82May 20, 2020
SLC52A32Aug 4, 2017
SMARCC21May 29, 2019
SMN11May 22, 2019
SMO1May 22, 2019
SNIP11May 22, 2019
SNORD1184Jun 8, 2020
SON1Aug 18, 2022
SORD1Jan 4, 2023
SOX111Nov 27, 2018
SOX41Sep 2, 2021
SOX51Aug 18, 2022
SPEN1Jan 4, 2023
SPG112Mar 27, 2018
SPG72Nov 27, 2018
SPINK11May 28, 2021
SPOP2Dec 3, 2021
SPTBN12May 28, 2021
SPTBN21Sep 17, 2019
SPTSSA1Jun 6, 2023
SRCAP1Mar 27, 2018
SREBF21Apr 12, 2023
SSR41Jan 4, 2023
ST20-MTHFS2May 22, 2019
STAG21Feb 23, 2022
STAT31Apr 5, 2024
STIM11Mar 27, 2018
STRN41Mar 27, 2018
STT3A1Jan 19, 2024
STX161Aug 24, 2020
STX16-NPEPL11Aug 24, 2020
STXBP12Feb 13, 2020
SYNE12May 28, 2021
SYNGAP12Apr 23, 2020
SYNGAP1-AS12Apr 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
TH2Apr 5, 2024
TMEM1074Jun 8, 2020
TMEM161B2Jun 6, 2023
TMEM942May 29, 2019
TNPO22May 26, 2022
TNXB1Feb 23, 2022
TOMM701Apr 23, 2020
TONSL4May 22, 2019
TONSL-AS11May 22, 2019
TOP3A2Feb 21, 2019
TOR1AIP12Mar 27, 2018
TRAF71Dec 3, 2021
TRAPPC41May 20, 2020
TRIM541Nov 27, 2018
TRIM81Jul 17, 2018
TRIP112May 22, 2019
TRIP121Mar 27, 2018
TSPEAR2Jul 17, 2018
TSPEAR-AS11Jul 17, 2018
TTI12Jan 19, 2024
TTN5Aug 24, 2020
TTN-AS13Feb 21, 2019
TUB2Sep 17, 2019
TUBB2A1May 28, 2021
TUBB4A2Dec 4, 2020
TUBB4B1Feb 23, 2022
UBA11Apr 12, 2023
UBA54Jul 20, 2021
UBAP11Sep 17, 2019
UCHL11Apr 5, 2024
UCN1Nov 27, 2018
UGP21Sep 2, 2021
UNC45A2Aug 24, 2020
UNC801Aug 4, 2017
UQCRFS11Jan 4, 2023
USP71May 29, 2019
USP9X1Aug 18, 2022
VAMP21Mar 3, 2021
VARS12Jan 19, 2024
VARS23Jan 19, 2024
VPS13D2Aug 18, 2022
VPS511Apr 19, 2024
WAC1Jul 17, 2018
WARS22May 26, 2022
WARS2-AS11May 26, 2022
WDR371Mar 3, 2021
WDR731Sep 17, 2019
WFS12Apr 5, 2024
WNT10A1May 28, 2021
WWOX4Jan 4, 2023
XPNPEP31Apr 5, 2024
YARS21Sep 2, 2021
ZBTB471Jan 19, 2024
ZC4H23Aug 24, 2020
ZMPSTE241May 29, 2019
ZNF2922Apr 5, 2024
ZNF3311Jan 19, 2024
ZNF8651Apr 12, 2023

Condition

NameSubmissionsLast Updated
1p13.3 deletion syndrome1Jun 24, 2019
3-methylcrotonyl-CoA carboxylase 2 deficiency1Jan 19, 2024
46,XX sex reversal 41Aug 4, 2017
ABCA2-related disorder2Mar 27, 2018
ACOX1-related disorder1Jan 3, 2024
ADCY2-related disorder1Apr 5, 2024
ADGRV1-related myoclonic epilepsy1Sep 17, 2019
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Apr 23, 2020
AGTPBP1-related disorder2May 29, 2019
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Dec 3, 2021
AIFM1-related hypomyelination with spondylometaphyseal dysplasia1Nov 27, 2018
ALG1-congenital disorder of glycosylation3Mar 27, 2018
ANE syndrome2Jan 19, 2024
ARX-associated condition1May 22, 2019
ATAD3 gene cluster related condition1May 26, 2022
ATP5F1A-related disorder2May 26, 2022
ATP5PO-related disorder1Aug 25, 2020
AXIN2-related disorder1Aug 18, 2022
Actin accumulation myopathy1Apr 5, 2024
Action myoclonus-renal failure syndrome1Aug 4, 2017
Adrenoleukodystrophy1Mar 27, 2018
Adult hypophosphatasia3Jan 19, 2024
Adult polyglucosan body disease2May 28, 2021
Adult-onset autosomal dominant demyelinating leukodystrophy1Feb 23, 2022
Aicardi-Goutieres syndrome 41Nov 27, 2018
Aicardi-Goutieres syndrome 92Jan 4, 2023
Alagille syndrome due to a JAG1 point mutation1Jul 17, 2018
Alexander disease1May 29, 2019
Alpha thalassemia-X-linked intellectual disability syndrome1Sep 2, 2021
Alpha-1-antitrypsin deficiency1Feb 23, 2022
Alstrom syndrome1May 22, 2019
Alternating hemiplegia of childhood 21Mar 27, 2018
Alzheimer disease 31Mar 27, 2018
Amelocerebrohypohidrotic syndrome2Aug 4, 2017
Arthrogryposis, distal, with impaired proprioception and touch2Mar 27, 2018
Arts syndrome1Apr 5, 2024
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome3Jul 17, 2018
Ataxia-telangiectasia syndrome1Apr 5, 2024
Ataxia-telangiectasia-like disorder 12May 22, 2019
Atopic eczema1Feb 21, 2019
Atrial septal defect 81Sep 17, 2019
Au-Kline syndrome2Sep 17, 2019
Autism1May 22, 2019
Autism spectrum disorder due to AUTS2 deficiency2Apr 23, 2020
Autoimmune lymphoproliferative syndrome type 11Apr 19, 2024
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Apr 15, 2019
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome2Feb 23, 2022
Autosomal dominant osteopetrosis 21Mar 3, 2021
Autosomal recessive DOPA responsive dystonia2Apr 5, 2024
Autosomal recessive ataxia, Beauce type2May 28, 2021
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Aug 18, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D2Aug 24, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2I2Mar 27, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2J3Feb 21, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2Y2Mar 27, 2018
Autosomal recessive nonsyndromic hearing loss 1A1Jan 14, 2019
Autosomal recessive osteopetrosis 11Mar 3, 2021
Autosomal recessive spastic paraplegia type 762Jul 17, 2018
Autosomal recessive spastic paraplegia type 782Jan 4, 2023
Autosomal systemic lupus erythematosus type 162May 28, 2021
BAP1-associated neurodevelopmental disorder1Dec 4, 2020
BICRA-related disorder1Mar 3, 2021
BLK-related disorder1Apr 5, 2024
Baraitser-winter syndrome 21Oct 28, 2021
Basal ganglia calcification, idiopathic, 51May 26, 2022
Bethlem myopathy 1A2Jul 17, 2018
Bohring-Opitz syndrome2Apr 23, 2020
Bone mineral density quantitative trait locus 181Jan 4, 2023
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 disorder2May 22, 2019
CACNA1C-related disorder2May 20, 2020
CDH2-related disorder1Sep 17, 2019
CDK19-related disorder1May 20, 2020
CDKL5-related disorder1Apr 23, 2020
CHARGE syndrome2Aug 18, 2022
CHRNA3-related disorder2Sep 17, 2019
COG4-congenital disorder of glycosylation1May 29, 2019
COPB2-related disorder2Dec 3, 2021
CRELD1-related disorder2Aug 24, 2020
CTNNA1-associated FEVR1Jan 4, 2023
Capillary malformation1Mar 27, 2018
Cardiac, facial, and digital anomalies with developmental delay1Dec 3, 2021
Cardiofaciocutaneous syndrome 11Mar 27, 2018
Cardiofaciocutaneous syndrome 31Feb 21, 2019
Cardiofaciocutaneous syndrome 41Aug 24, 2020
Cerebellar ataxia1Mar 27, 2018
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome1Aug 18, 2022
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, axonal, autosomal recessive, type 2a2b;1Aug 18, 2022
Charcot-Marie-Tooth disease, axonal, type 2FF1Apr 12, 2023
Charcot-Marie-Tooth disease, type IA1Nov 27, 2018
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 defect type 203Jan 19, 2024
Combined oxidative phosphorylation deficiency 321Jun 6, 2023
Complex cortical dysplasia with other brain malformations 31Jul 17, 2018
Complex cortical dysplasia with other brain malformations 51May 28, 2021
Congenital disorder of glycosylation with defective fucosylation 22May 22, 2019
Congenital disorder of glycosylation, type Iw, autosomal dominant2Jan 19, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2May 22, 2019
Congenital heart defects, multiple types, 41Nov 27, 2018
Congenital malabsorptive diarrhea 42Jan 4, 2023
Congenital muscular dystrophy due to LMNA mutation1May 20, 2020
Congenital myasthenic syndrome 52May 20, 2020
Congenital myasthenic syndrome 82Apr 5, 2024
Congenital myopathy with fiber type disproportion3May 22, 2019
Congenital titinopathy2Aug 24, 2020
Cornelia de Lange syndrome 51Jul 17, 2018
Curry-Jones syndrome1May 22, 2019
Cystic fibrosis5May 26, 2022
DAGLA-related disorder1Jun 6, 2023
DHX9-related disorder1Jun 6, 2023
DNM1L-related movement disorder1Sep 2, 2021
DOHH-related disorder1Apr 12, 2023
DONSON-related Meier-Gorlin syndrome2Mar 3, 2021
DPH5-related diphthamide-deficiency syndrome2Jan 19, 2024
DROSHA-related neurodevelopmental disorder1Sep 17, 2019
DSP-related arrhythmogenic cardiomyopathy1Sep 17, 2019
DYRK1A-related intellectual disability syndrome1Nov 27, 2018
DeSanto-Shinawi syndrome due to WAC point mutation1Jul 17, 2018
Deafness-infertility syndrome1Nov 27, 2018
Decreased activity of mitochondrial ATP synthase complex1Mar 27, 2018
Deficiency of aromatic-L-amino-acid decarboxylase1Feb 21, 2019
Dermatitis, atopic, 21May 20, 2020
Desmin-related myofibrillar myopathy1Mar 27, 2018
Developmental and epileptic encephalopathy 1041Jan 19, 2024
Developmental and epileptic encephalopathy 961Apr 5, 2024
Developmental and epileptic encephalopathy, 131Feb 21, 2019
Developmental and epileptic encephalopathy, 24Sep 7, 2022
Developmental and epileptic encephalopathy, 284Jan 4, 2023
Developmental and epileptic encephalopathy, 311Mar 3, 2021
Developmental and epileptic encephalopathy, 321Sep 2, 2021
Developmental and epileptic encephalopathy, 331Mar 27, 2018
Developmental and epileptic encephalopathy, 351Sep 17, 2019
Developmental and epileptic encephalopathy, 361Mar 27, 2018
Developmental and epileptic encephalopathy, 381Mar 27, 2018
Developmental and epileptic encephalopathy, 42Feb 13, 2020
Developmental and epileptic encephalopathy, 444Jul 20, 2021
Developmental and epileptic encephalopathy, 471Mar 27, 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, 721Dec 3, 2021
Developmental and epileptic encephalopathy, 731Jan 4, 2023
Developmental and epileptic encephalopathy, 741May 22, 2019
Developmental and epileptic encephalopathy, 81Sep 17, 2019
Developmental and epileptic encephalopathy, 831Sep 2, 2021
Developmental delay with short stature, dysmorphic facial features, and sparse hair 11Jan 19, 2024
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Sep 2, 2021
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 disorder1Sep 17, 2019
EIF2AK2-related disorder2Sep 17, 2019
ELFN1-related disorder1Aug 24, 2020
EVI5-related disorder1Mar 27, 2018
EZH1-related disorder1Apr 19, 2024
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies1Apr 5, 2024
Ehlers-Danlos syndrome, classic type, 21May 20, 2020
Eichsfeld type congenital muscular dystrophy3May 22, 2019
Epileptic encephalopathy, infantile or early childhood, 11Mar 27, 2018
Epileptic encephalopathy, infantile or early childhood, 21Jul 17, 2018
Epileptic encephalopathy, infantile or early childhood, 31Jul 17, 2018
FAM177A1-related disorder2Apr 23, 2020
FBN2-related disorder1Jan 19, 2024
FLNA-related disorder1Feb 23, 2022
Familial cancer of breast1Feb 23, 2022
Familial cold autoinflammatory syndrome 11Mar 27, 2018
Familial cold autoinflammatory syndrome 23Apr 12, 2023
Fanconi anemia complementation group R1Mar 27, 2018
Floating-Harbor syndrome1Mar 27, 2018
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome2May 20, 2020
GABRA3-related disorder1Dec 3, 2021
GDF11-associated multiple congenital anomalies and ID1Mar 27, 2018
GET4-related disorder1Dec 3, 2021
GLYR1-related disorder2Mar 27, 2018
GNB2-related disorder1May 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
Generalized epilepsy-paroxysmal dyskinesia syndrome1Nov 27, 2018
Gillespie syndrome1May 20, 2020
Glaucoma 3, primary congenital, E1Sep 17, 2019
Glutamine related condition1Dec 3, 2021
Glycogen storage disease XV2Apr 23, 2020
Gorlin syndrome2Dec 3, 2021
H3F3A-related disorder1Jul 17, 2018
HNRNPA1-related multisystem proteinopathy1Apr 23, 2020
Hereditary diffuse gastric adenocarcinoma1May 26, 2022
Hereditary liability to pressure palsies1Jul 17, 2018
Hereditary pancreatitis1May 28, 2021
Hereditary spastic paraplegia 112Mar 27, 2018
Hereditary spastic paraplegia 351Jul 17, 2018
Hereditary spastic paraplegia 501Apr 23, 2020
Hereditary spastic paraplegia 72Nov 27, 2018
Hereditary spastic paraplegia 9A1Jul 17, 2018
Houge-Janssens syndrome 21Apr 12, 2023
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
Hypomagnesemia 7, renal, with or without dilated cardiomyopathy1Apr 5, 2024
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial1Apr 12, 2023
Hypomyelinating leukodystrophy 62Dec 4, 2020
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism4Apr 12, 2023
Hypophosphatemic nephrolithiasis/osteoporosis 21Jan 19, 2024
Hypotonia, ataxia, and delayed development syndrome2Jan 19, 2024
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
IQGAP1-associated immune condition1Sep 13, 2022
IRF2BPL-related disorder5May 29, 2019
Ichthyosis vulgaris2Apr 23, 2020
Idiopathic basal ganglia calcification 14Feb 21, 2019
Immunodeficiency 331Apr 5, 2024
Immunodeficiency 672Mar 3, 2021
Immunodeficiency 841Apr 5, 2024
Immunodeficiency, common variable, 101Aug 24, 2020
Impaired Hearing2Aug 24, 2020
Inclusion body myopathy and brain white matter abnormalities1Apr 5, 2024
Increased susceptibility to fractures2Aug 24, 2020
Infantile liver failure syndrome 22Aug 18, 2022
Infantile liver failure syndrome 32Dec 3, 2021
Infantile neuroaxonal dystrophy4Apr 12, 2023
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 hypotonia and behavioral abnormalities1Jan 4, 2023
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies1May 26, 2022
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Feb 21, 2019
Intellectual developmental disorder, autosomal dominant 641Apr 5, 2024
Intellectual disability1Mar 27, 2018
Intellectual disability, X-linked 1022Mar 3, 2021
Intellectual disability, X-linked 99, syndromic, female-restricted1Aug 18, 2022
Intellectual disability, X-linked syndromic, Turner type1Nov 27, 2018
Intellectual disability, autosomal dominant 11Jan 4, 2023
Intellectual disability, autosomal dominant 132Aug 18, 2022
Intellectual disability, autosomal dominant 201Nov 27, 2018
Intellectual disability, autosomal dominant 271Nov 27, 2018
Intellectual disability, autosomal dominant 52Apr 23, 2020
Intellectual disability, autosomal dominant 542Jan 19, 2024
Intellectual disability, autosomal dominant 562May 20, 2020
Intellectual disability, autosomal dominant 582May 26, 2022
Intellectual disability, autosomal dominant 61May 22, 2019
Intellectual disability, autosomal dominant 91Apr 5, 2024
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Dec 3, 2021
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2Aug 18, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1May 28, 2021
Isolated focal cortical dysplasia type II1Sep 17, 2019
Joubert syndrome 302Feb 21, 2019
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1May 26, 2022
KARS1-related disorder1May 28, 2021
KCNC2-related disorder1May 28, 2021
KDR-related disorder1Jan 19, 2024
KIF21A-related disorder1Apr 12, 2023
KIF5B-related osteogenesis imperfecta syndrome1Sep 21, 2023
KLF7-related disorder1Apr 23, 2020
KMT2C-related disorder1Sep 17, 2019
KRAS-related RASopathy1Dec 4, 2020
Kabuki syndrome 11May 26, 2022
Kilquist syndrome1May 22, 2019
Kleefstra syndrome 12Dec 4, 2020
Kleefstra syndrome 22Sep 2, 2021
Kleine-Levin syndrome7Jan 4, 2023
Koolen-de Vries syndrome1Aug 24, 2020
Kufor-Rakeb syndrome2Aug 24, 2020
Kugelberg-Welander disease1May 22, 2019
LMNA-associated condition1Jul 31, 2019
LONP1-related disorder1Feb 21, 2019
Lamb-Shaffer syndrome1Aug 18, 2022
Landau-Kleffner syndrome1Mar 27, 2018
Leber congenital amaurosis with early-onset deafness1Feb 23, 2022
Lethal congenital contracture syndrome 71Mar 27, 2018
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome4Jul 17, 2018
Lethal tight skin contracture syndrome1May 29, 2019
Leukodystrophy, hypomyelinating, 181May 28, 2021
Leukoencephalopathy with calcifications and cysts4Jun 8, 2020
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome4Apr 5, 2024
Lissencephaly type 1 due to doublecortin gene mutation1Sep 2, 2021
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2May 28, 2021
Lowry-Wood syndrome2Apr 12, 2023
MADD-related disorder2Aug 24, 2020
MAP2K1-related rasopathy-like syndrome1May 28, 2021
MAP3K20-related disorder1Dec 3, 2021
MAPK8IP3-related disorder1Nov 27, 2018
MAST3-related disorder1May 28, 2021
MED12-related disorder1Feb 23, 2022
MERRF syndrome1Aug 24, 2020
MIR145-related multisystemic smooth muscle dysfunction1Aug 18, 2022
MIRAGE syndrome1Apr 5, 2024
MORC2-related developmental disorder1Sep 17, 2019
MPEG1-related immunodeficiency1Aug 24, 2020
MPV17-related mitochondrial DNA maintenance defect2Nov 27, 2018
MT-TK-related disorder1Jan 19, 2024
MTOR-related megalencephaly and pigmentary mosaicism in skin1May 29, 2019
MTSS2-related neurodevelopmental disorder1May 20, 2020
MYBPC1-related disorder1Mar 27, 2018
MYCBP2-related disorder1Jun 6, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Apr 5, 2024
Malan overgrowth syndrome1Jun 6, 2023
Mandibulofacial dysostosis-microcephaly syndrome1Mar 27, 2018
Marfan syndrome2Mar 3, 2021
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Jan 19, 2024
Megaconial type congenital muscular dystrophy2May 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2Apr 5, 2024
Megalencephaly-capillary malformation-polymicrogyria syndrome1Sep 17, 2019
Meier-Gorlin syndrome 72Apr 5, 2024
Menkes kinky-hair syndrome1Apr 23, 2020
Metaphyseal chondrodysplasia, McKusick type2Sep 2, 2021
Methylmalonic acidemia with homocystinuria, type cblX1May 26, 2022
Microcephalic primordial dwarfism, Alazami type2Aug 18, 2022
Microcephaly 17, primary, autosomal recessive2Feb 21, 2019
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Jul 17, 2018
Mitchell syndrome1Sep 2, 2021
Mitochondrial DNA depletion syndrome2Jan 22, 2018
Mitochondrial complex 1 deficiency, nuclear type 213May 28, 2021
Mitochondrial complex 1 deficiency, nuclear type 342May 26, 2022
Mitochondrial complex 3 deficiency, nuclear type 101Jan 4, 2023
Mitochondrial complex 4 deficiency, nuclear type 112May 28, 2021
Mitochondrial complex II deficiency, nuclear type 12Jan 4, 2023
Mitochondrial disease1May 22, 2019
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Mar 27, 2018
Monocytopenia with susceptibility to infections1Feb 21, 2019
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-hypotonia-seizures syndrome 12Apr 12, 2023
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1May 28, 2021
Myeloperoxidase deficiency2Jan 19, 2024
Myofibrillar myopathy 81Mar 27, 2018
Myopathy2Aug 4, 2017
Myopathy, distal, 51Jul 17, 2018
Myopathy, proximal, and ophthalmoplegia1Feb 21, 2019
NARP syndrome1Apr 5, 2024
NAV2-related neurodevelopmental condition2May 26, 2022
NBEA-related developmental delay and generalized epilepsy1Feb 21, 2019
NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS)1Mar 4, 2021
NOTCH1-related disorder1Jan 19, 2024
NSD2-related disorder1Jul 30, 2019
NUDT2-associated condition1Jul 31, 2019
Nephronophthisis 11Aug 4, 2017
Nephronophthisis-like nephropathy 12Apr 5, 2024
Nephropathic cystinosis2Apr 23, 2020
Nephropathy, chronic tubulointerstitial1Aug 18, 2022
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities1May 28, 2021
Neurodevelopmental disorder with alopecia and brain abnormalities1Aug 24, 2020
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 hearing loss and spasticity2Jan 19, 2024
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia1Jan 19, 2024
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 and movement abnormalities2Jan 19, 2024
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination2May 22, 2019
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Aug 24, 2020
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures3Apr 5, 2024
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities1Jun 6, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Jan 19, 2024
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
Neuronopathy, distal hereditary motor, autosomal recessive 81Jan 4, 2023
Neurooculocardiogenitourinary syndrome1Mar 3, 2021
Neuropathy, hereditary sensory, type 1F1Apr 5, 2024
Niemann-Pick disease, type C11Dec 3, 2021
Nizon-Isidor syndrome1Jan 19, 2024
Noonan syndrome 11Mar 27, 2018
Noonan syndrome 121Jan 19, 2024
Noonan syndrome 22May 22, 2019
ORC3-related disorder2Apr 5, 2024
Oculogastrointestinal-neurodevelopmental syndrome1Jan 4, 2023
Odontochondrodysplasia 12May 22, 2019
Osteodysplastic primordial dwarfism, type 12Apr 12, 2023
Osteogenesis imperfecta type I1May 28, 2021
Osteopathia striata with cranial sclerosis1Feb 21, 2019
PAPSS1-related disorder2Jun 6, 2023
PHACTR1-related neurodevelopmental condition1May 26, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome2Apr 23, 2020
PIGQ-related disorder2Feb 21, 2019
PIP5K1C-related neurodevelopmental disorder2Apr 19, 2024
POLG-related disorder1Nov 27, 2018
PPFIA3-related disorder1Jan 19, 2024
PPP5C-related disorder1Jan 19, 2024
PRDM16-related congenital heart disease1Jan 19, 2024
PRELP-related osteosclerosis1Jul 17, 2018
PRKAR1B-related neurodevelopmental disorder1May 28, 2021
PRNP-associated condition1Jul 31, 2019
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome2Apr 23, 2020
Paragangliomas 11Feb 18, 2020
Parkinsonism-dystonia 3, childhood-onset2May 26, 2022
Peroxisomal disorder1May 22, 2019
Peroxisome biogenesis disorder 14B2Aug 4, 2017
Peroxisome biogenesis disorder 4B2Nov 27, 2018
Perrault syndrome 32Apr 5, 2024
Phenylketonuria2Apr 12, 2023
Pitt-Hopkins syndrome1Aug 24, 2020
Polycystic kidney disease, adult type1Jul 17, 2018
Polyglandular autoimmune syndrome, type 11Apr 5, 2024
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis2Apr 12, 2023
Pontocerebellar hypoplasia type 2D2Mar 27, 2018
Pontocerebellar hypoplasia type 62Mar 27, 2018
Pontocerebellar hypoplasia, type 131Apr 19, 2024
Predisposition to dissection2May 22, 2019
Primary ciliary dyskinesia 74Apr 5, 2024
Primary progressive multiple sclerosis2Jan 22, 2018
Progressive encephalopathy with leukodystrophy due to DECR deficiency1Mar 27, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 52Feb 21, 2019
Progressive myoclonic epilepsy type 32Mar 27, 2018
Progressive myoclonic epilepsy type 71Jul 17, 2018
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
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41Apr 5, 2024
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1Jan 4, 2023
Pyruvate dehydrogenase E1-alpha deficiency1Jan 4, 2023
Pyruvate dehydrogenase E2 deficiency1Apr 5, 2024
RAB5B-associated surfactant dysfunction disorder1Feb 23, 2022
RAB5C-related disorder1Feb 23, 2022
RNF2-associated neurodevelopmental condition1Dec 4, 2020
RNH1-related disorder2Dec 14, 2020
RPA1-related short telomere syndrome1Dec 3, 2021
RRAGD-related disorder1Apr 12, 2023
Radio-Tartaglia syndrome1Jan 4, 2023
Rauch-Steindl syndrome1Jan 19, 2024
Recessive dystrophic epidermolysis bullosa2Mar 27, 2018
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Aug 4, 2017
Renpenning syndrome1May 20, 2020
Retinal dystrophy and obesity2Sep 17, 2019
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome1Apr 23, 2020
Rett syndrome5Mar 3, 2021
Rett syndrome, congenital variant2May 28, 2021
Roifman syndrome5May 26, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1May 28, 2021
SARS2-associated condition2Jul 30, 2019
SCN2A-related disorder1Mar 27, 2018
SEPHS1-related disorder1Apr 5, 2024
SLC25A42-related mitochondrial encephalomyopathy1Nov 27, 2018
SLC25A46-associated optic atrophy spectrum disorder2May 22, 2019
SLC35A2-congenital disorder of glycosylation1Oct 24, 2019
SMARCC2-related disorder1May 29, 2019
SPOP-related disorder1Aug 24, 2020
SPOP-related neurodevelopmental condition1Dec 3, 2021
SPTBN1-related disorder1May 28, 2021
SPTBN1-related neurodevelopmental disease1Feb 21, 2019
SPTSSA-related disorder1Jun 6, 2023
SREBF2-related disorder1Apr 12, 2023
SSR4-congenital disorder of glycosylation1Jan 4, 2023
STAG2-related disorder1Feb 23, 2022
STAT3-related early-onset multisystem autoimmune disease1Apr 5, 2024
Schaaf-Yang syndrome1Mar 27, 2018
Scoliosis1May 22, 2019
Senior-Loken syndrome 52Mar 27, 2018
Senior-loken syndrome 31Aug 4, 2017
Severe combined immunodeficiency due to CARMIL2 deficiency1May 20, 2020
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2May 22, 2019
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2May 22, 2019
Severe intellectual disability-progressive spastic diplegia syndrome1Nov 27, 2018
Shashi-Pena syndrome1Aug 4, 2017
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1May 28, 2021
Shwachman-Diamond syndrome 23May 29, 2019
Sialic acid storage disease, severe infantile type2Apr 5, 2024
Siddiqi syndrome2Jan 19, 2024
Skraban-Deardorff syndrome1Apr 5, 2024
Smith-Magenis syndrome1Mar 27, 2018
Snijders Blok-Campeau syndrome1Jan 19, 2024
Spastic ataxia 52Jan 4, 2023
Spastic paraplegia 79A, autosomal dominant, with ataxia1Apr 5, 2024
Spastic paraplegia 80, autosomal dominant1Sep 17, 2019
Spinocerebellar ataxia type 281Mar 27, 2018
Spinocerebellar ataxia type 51Sep 17, 2019
Spinocerebellar ataxia, autosomal recessive 242Apr 30, 2020
Spondyloepimetaphyseal dysplasia, Bieganski type1Dec 3, 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
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy2Nov 27, 2018
TBX2-related disorder1May 29, 2019
TMEM161B-related lissencephaly2Jun 6, 2023
TMEM94-related disorder2May 29, 2019
TNPO2-related disorder1Feb 23, 2022
TNXB-related hypermobile Ehlers-Danlos syndrome1Feb 23, 2022
TOMM70-related neurodevelopmental disorder1Apr 23, 2020
TONSL-related disorder4May 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
Telangiectasia, hereditary hemorrhagic, type 11Jan 22, 2018
Tessadori-Van Haaften neurodevelopmental syndrome 31Apr 12, 2023
Thrombophilia due to activated protein C resistance1Sep 16, 2020
Tooth agenesis, selective, 41May 28, 2021
Tooth agenesis, selective, 71Feb 23, 2022
UNC45A-associated Cholestasis2Aug 24, 2020
USP7-related disorder1May 29, 2019
VEXAS syndrome1Apr 12, 2023
Van Maldergem syndrome 22Mar 27, 2018
Vertebral hypersegmentation and orofacial anomalies1Feb 23, 2022
Ververi-Brady syndrome1Jul 17, 2018
Vici syndrome1Sep 2, 2021
WHSC1-related disorder1May 22, 2019
Wieacker-Wolff syndrome2May 20, 2020
Wieacker-Wolff syndrome, female-restricted1Aug 24, 2020
Wiedemann-Steiner syndrome1Mar 27, 2018
Wolf-Hirschhorn like syndrome1May 20, 2020
Wolfram syndrome 12Apr 5, 2024
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1Dec 3, 2021
X-linked intellectual disability-cerebellar hypoplasia syndrome1Feb 21, 2019
Xeroderma pigmentosum, group F2Mar 3, 2021
Yao syndrome2Mar 3, 2021
ZBTB47-related disorder1Jan 19, 2024
ZNF292-related neurodevelopmental condition1Mar 27, 2018
ZNF331 deletion1Jan 19, 2024
ZNF865-related disorder1Apr 12, 2023
ZTTK syndrome1Aug 18, 2022
not specified2Aug 4, 2017