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Genomic Medicine Lab (University of California San Francisco), UCSF GML

General information

Genomic Medicine Lab, UCSF GML
University of California San Francisco
2340 Sutter Street, N171
San Francisco
California
United States - 94143

Organization ID: 506696

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 386

Gene

GeneSubmissionsLast Updated
ACAD92Sep 17, 2019
ACO21Sep 17, 2019
ACTA11Mar 31, 2021
ACTB1Mar 31, 2021
ACTG11Mar 31, 2021
ACTG21Mar 31, 2021
ADNP1Sep 17, 2019
AGA1Mar 31, 2021
AHDC11Sep 17, 2019
ALAS21Apr 17, 2024
ALG11Mar 31, 2021
ALPL2Sep 22, 2022
ALS21Mar 31, 2021
AMPD22Mar 31, 2021
ANKRD114Mar 31, 2021
ANKRD171Sep 17, 2019
APOB1Apr 17, 2024
AQP21Mar 31, 2021
AR1Mar 31, 2021
ARHGEF91Sep 22, 2022
ARID1A2Mar 31, 2021
ARMC91Sep 17, 2019
ARSL1Sep 17, 2019
ARX1Mar 31, 2021
ASH1L2Sep 22, 2022
ASS11Apr 17, 2024
ATP1A21Apr 17, 2024
BCL11A1May 13, 2020
BCS1L2Mar 31, 2021
BICD21Mar 31, 2021
BIVM-ERCC51Mar 31, 2021
BMP21Sep 17, 2019
BRAF1Sep 17, 2019
BRCA11Apr 17, 2024
BRCA23Sep 17, 2019
BRIP11Apr 17, 2024
BRPF11Mar 31, 2021
CACNA1A3Sep 22, 2022
CBL1Sep 22, 2022
CC2D2A1Sep 17, 2019
CCDC81Sep 17, 2019
CCNH1Apr 17, 2024
CD961Sep 17, 2019
CDH21Apr 17, 2024
CDK101Sep 22, 2022
CELSR11Apr 17, 2024
CEP2901Apr 17, 2024
CEP552Mar 31, 2021
CHAMP11Mar 31, 2021
CHD32Mar 31, 2021
CHD75Sep 22, 2022
CHEK21Sep 17, 2019
CNOT31Sep 22, 2022
COL1A12Sep 22, 2022
COL1A21Mar 31, 2021
COL2A12Sep 22, 2022
COL4A51Oct 12, 2022
COL6A11Mar 31, 2021
COL6A21Mar 31, 2021
CSNK2B1Mar 31, 2021
CTCF2Mar 31, 2021
CYP1B12Mar 31, 2021
DCDC2C1Sep 17, 2019
DCLRE1C1Apr 17, 2024
DDB11Sep 17, 2019
DDX3X2Mar 31, 2021
DELE11Sep 17, 2019
DGAT11Sep 17, 2019
DHCR242Mar 31, 2021
DLL11Mar 31, 2021
DMD1Apr 17, 2024
DNAH92Mar 31, 2021
DOK71Apr 17, 2024
DUSP292Sep 22, 2022
DYNC2H14Sep 22, 2022
DYRK1A2Sep 22, 2022
ECEL11Mar 31, 2021
EFL11Sep 17, 2019
EFTUD21Mar 31, 2021
EHMT11Sep 17, 2019
EIF2S31Mar 31, 2021
ELN1Mar 31, 2021
ELP11Sep 17, 2019
EP3003Mar 31, 2021
ERCC51Mar 31, 2021
EXT21Sep 17, 2019
FGD11Mar 31, 2021
FGF81Sep 17, 2019
FGFR22Apr 17, 2024
FGFR32Sep 22, 2022
FLNA3Sep 22, 2022
FLNC1Mar 31, 2021
FOXC21Mar 31, 2021
FOXF11Sep 17, 2019
FOXP21Mar 31, 2021
FOXP31Mar 31, 2021
FREM24Sep 22, 2022
FXN1Apr 17, 2024
GATAD11Mar 31, 2021
GDF51Sep 17, 2019
GDF5-AS11Sep 17, 2019
GH-LCR1Apr 17, 2024
GLI22Sep 17, 2019
GLI31Sep 17, 2019
GNAS1Sep 17, 2019
GORAB1Sep 17, 2019
GRIN2A1Mar 31, 2021
GRIN2D1Mar 31, 2021
GTF2H51Mar 31, 2021
GUCY2C1Apr 17, 2024
HAAO1Mar 31, 2021
HBA21Mar 31, 2021
HBG21Apr 17, 2024
HDAC81Sep 22, 2022
HEPHL11Mar 31, 2021
HFE3Apr 17, 2024
HFE-AS12Apr 17, 2024
HNRNPH22Sep 22, 2022
HRAS4Mar 31, 2021
HSALR13Sep 22, 2022
HSPG22Mar 31, 2021
HUWE11Sep 17, 2019
IDUA1Mar 31, 2021
IFT741Mar 8, 2021
INTS12Sep 17, 2019
IQSEC22Sep 17, 2019
JAG12Apr 17, 2024
KANSL13Apr 17, 2024
KAT6A2Sep 17, 2019
KAT6B2Sep 22, 2022
KCNA21Sep 17, 2019
KCNJ111Mar 31, 2021
KCNK41Mar 31, 2021
KCNK4-CATSPERZ1Mar 31, 2021
KDM3B1Mar 31, 2021
KIF1A2Apr 17, 2024
KMT2A6Mar 31, 2021
KMT2D7Apr 17, 2024
KRAS2Apr 17, 2024
KRIT11Sep 17, 2019
LAMA12Mar 31, 2021
LAMA21Mar 31, 2021
LOC1060990651Apr 17, 2024
LOC1068046121Mar 31, 2021
LOC1082811771Mar 31, 2021
LOC1086639841Apr 17, 2024
LOC1100112161Apr 17, 2024
LOC1125434521Mar 31, 2021
LOC1217406381Mar 31, 2021
LOC1268064221Apr 17, 2024
LOC1268613651Sep 17, 2019
LOC1268618341Mar 31, 2021
LOC1268625051Mar 31, 2021
LOC1268632561Mar 31, 2021
LOC1299313821Mar 31, 2021
LOC1300013861Sep 17, 2019
LOC1300018621Apr 17, 2024
LOC1300648571Mar 31, 2021
LOC1300670161Apr 17, 2024
LRP12Sep 17, 2019
LRP61Sep 17, 2019
LRRC564Mar 31, 2021
LZTR13Apr 17, 2024
MAGEL22Mar 31, 2021
MAPT1Apr 17, 2024
MAST11Mar 31, 2021
MBD51Mar 31, 2021
MC4R1Sep 22, 2022
MCPH11Mar 31, 2021
MEA11Mar 31, 2021
MECP23Sep 17, 2019
MED13L1Mar 31, 2021
MEIS21Apr 17, 2024
METTL232Mar 31, 2021
MMACHC1Sep 17, 2019
MN11Sep 17, 2019
MRPS221Mar 31, 2021
MSL31Mar 31, 2021
MT-TL11Apr 17, 2024
MTA31Mar 31, 2021
MVP-DT1Sep 17, 2019
MYH31Mar 31, 2021
MYH61Apr 17, 2024
MYRF1Mar 31, 2021
NALCN1Sep 17, 2019
NFIB1Mar 31, 2021
NODAL1Mar 31, 2021
NOTCH12Apr 17, 2024
NPC11Sep 17, 2019
NR3C21Mar 31, 2021
NRAS1Apr 17, 2024
NSD11Mar 31, 2021
NSD21Mar 31, 2021
OFD11Jan 5, 2022
OTOG1Sep 17, 2019
PALB21Apr 17, 2024
PARN1Apr 17, 2024
PBX11Mar 31, 2021
PCDH121Sep 17, 2019
PDCD101Mar 31, 2021
PDHA13Apr 17, 2024
PEX11Mar 31, 2021
PGAP21Sep 17, 2019
PHF81Mar 31, 2021
PHOX2B1Apr 17, 2024
PIEZO15Sep 22, 2022
PIEZO21Apr 17, 2024
PIK3CA1Apr 17, 2024
PKD11Apr 17, 2024
PKHD11Sep 17, 2019
PLEKHA51Sep 17, 2019
PLPBP1Sep 17, 2019
PMM21Mar 31, 2021
POC1A1Sep 22, 2022
POGZ1Sep 17, 2019
POLR1A1Mar 31, 2021
POLR2F1Sep 17, 2019
POLR3H1Sep 17, 2019
POMT23Sep 22, 2022
POR1Sep 17, 2019
PPP2R5D1Mar 31, 2021
PRF11Apr 17, 2024
PROKR21Sep 17, 2019
PRRT21Sep 17, 2019
PTEN1Sep 17, 2019
PTPN1110Apr 17, 2024
PUS72Mar 31, 2021
RAD212Mar 31, 2021
RASA11Apr 17, 2024
RET1Mar 31, 2021
RIT13Apr 17, 2024
RNF113A1Sep 17, 2019
ROCK22Mar 31, 2021
RPL36A-HNRNPH22Sep 22, 2022
RPS6KA32Mar 31, 2021
SALL11Sep 17, 2019
SATB22Mar 31, 2021
SCN1B1Sep 17, 2019
SCN2A1Sep 17, 2019
SCN4A1Apr 17, 2024
SETBP11Sep 17, 2019
SETSIP1Sep 22, 2022
SF3B41Mar 31, 2021
SFTPC1Apr 17, 2024
SHOC22Sep 22, 2022
SIN3A1Mar 31, 2021
SKIC31Sep 17, 2019
SLC16A21Mar 31, 2021
SLC17A52Mar 31, 2021
SLC19A31Mar 31, 2021
SLC26A11Mar 31, 2021
SLC26A21Sep 17, 2019
SLC6A12Sep 17, 2019
SMAD41Mar 31, 2021
SMAD61Mar 31, 2021
SMC31Sep 17, 2019
SNAP252Mar 31, 2021
SOS13Apr 17, 2024
SOX101Sep 17, 2019
SOX21Mar 31, 2021
SOX2-OT1Mar 31, 2021
SPI11Apr 17, 2024
SPTAN11Mar 31, 2021
SRCAP1Sep 22, 2022
SRD5A21Sep 17, 2019
SUZ122Sep 22, 2022
SYNE12Sep 22, 2022
SYNGAP11Mar 31, 2021
TANGO21Oct 3, 2018
TBC1D231Mar 31, 2021
TBCEL-TECTA1Sep 17, 2019
TBX51Mar 31, 2021
TCF201Sep 17, 2019
TECTA1Sep 17, 2019
TELO21Mar 31, 2021
TFAP2A1Mar 31, 2021
TFAP2A-AS21Mar 31, 2021
TMEM2373Sep 22, 2022
TNFRSF13B1Apr 17, 2024
TNNT22Apr 17, 2024
TPM12Apr 17, 2024
TPP12Mar 31, 2021
TRAF72Sep 22, 2022
TRIO1Apr 17, 2024
TRPV41Mar 31, 2021
TTN6Apr 17, 2024
TTN-AS15Apr 17, 2024
TUBA1A3Apr 17, 2024
TUBB2A1Mar 31, 2021
TUBB2B1Mar 31, 2021
USP9X2Mar 31, 2021
UTP231Mar 31, 2021
WDFY31Mar 31, 2021
WDR451Mar 31, 2021
ZBTB181Sep 22, 2022
ZC4H22Mar 31, 2021
ZEB22Sep 22, 2022
ZFPM21Sep 22, 2022
ZIC31Sep 17, 2019
ZNF3352Sep 17, 2019
ZP11Apr 17, 2024

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Sep 17, 2019
4p partial monosomy syndrome1Mar 31, 2021
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Sep 17, 2019
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Sep 17, 2019
ALG1-congenital disorder of glycosylation1Mar 31, 2021
Aarskog syndrome1Mar 31, 2021
Abnormal facial shape1Sep 22, 2022
Achondrogenesis, type IB1Sep 17, 2019
Acrofacial dysostosis Cincinnati type1Mar 31, 2021
Acromesomelic dysplasia 2C, Hunter-Thompson type1Sep 17, 2019
Acyl-CoA dehydrogenase 9 deficiency2Sep 17, 2019
Agammaglobulinemia 10, autosomal dominant1Apr 17, 2024
Alagille syndrome due to a JAG1 point mutation1Apr 17, 2024
Allan-Herndon-Dudley syndrome1Mar 31, 2021
Alveolar capillary dysplasia with pulmonary venous misalignment1Sep 17, 2019
Ambiguous genitalia1Sep 17, 2019
Amyotrophic lateral sclerosis type 2, juvenile1Mar 31, 2021
Androgen resistance syndrome1Mar 31, 2021
Anophthalmia/microphthalmia-esophageal atresia syndrome1Mar 31, 2021
Aortic valve disease 12Apr 17, 2024
Aortic valve disease 21Mar 31, 2021
Arrhythmogenic right ventricular dysplasia, familial, 141Apr 17, 2024
Arthrogryposis multiplex congenita 3, myogenic type2Sep 22, 2022
Aspartylglucosaminuria1Mar 31, 2021
Asphyxiating thoracic dystrophy 34Sep 22, 2022
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome2Mar 31, 2021
Atrial septal defect1Sep 17, 2019
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Mar 31, 2021
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome2Sep 17, 2019
Autosomal dominant pseudohypoaldosteronism type 11Mar 31, 2021
Autosomal recessive nonsyndromic hearing loss 211Sep 17, 2019
Autosomal recessive nonsyndromic hearing loss 281Apr 17, 2024
Autosomal recessive polycystic kidney disease1Sep 17, 2019
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201Sep 22, 2022
Baraitser-Winter syndrome 11Mar 31, 2021
Baraitser-winter syndrome 21Mar 31, 2021
Bardet-Biedl syndrome 221Mar 8, 2021
Basilicata-Akhtar syndrome1Mar 31, 2021
Bilateral cleft lip1Sep 17, 2019
Biotin-responsive basal ganglia disease1Mar 31, 2021
Branchiooculofacial syndrome1Mar 31, 2021
Breast-ovarian cancer, familial, susceptibility to, 11Apr 17, 2024
Breast-ovarian cancer, familial, susceptibility to, 51Apr 17, 2024
C syndrome1Sep 17, 2019
CHARGE association5Sep 22, 2022
Capillary hemangioma1Sep 17, 2019
Capillary malformation-arteriovenous malformation 11Apr 17, 2024
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Mar 31, 2021
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Apr 17, 2024
Cardiac, facial, and digital anomalies with developmental delay2Sep 22, 2022
Cardiofaciocutaneous syndrome 11Sep 17, 2019
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1Apr 17, 2024
Cerebral cavernous malformation1Sep 17, 2019
Cerebral cavernous malformation 31Mar 31, 2021
Cerebral palsy1Sep 17, 2019
Cerebrooculofacioskeletal syndrome 31Mar 31, 2021
Childhood apraxia of speech1Mar 31, 2021
Chromosome 2q32-q33 deletion syndrome2Mar 31, 2021
Ciliary dyskinesia, primary, 401Mar 31, 2021
Citrullinemia type I1Apr 17, 2024
Cobalamin C disease2Sep 17, 2019
Coffin-Lowry syndrome1Mar 31, 2021
Complex cortical dysplasia with other brain malformations 51Mar 31, 2021
Complex cortical dysplasia with other brain malformations 71Mar 31, 2021
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Mar 31, 2021
Congenital contractures of the limbs and face, hypotonia, and developmental delay1Sep 17, 2019
Congenital diaphragmatic hernia2Sep 17, 2019
Congenital diarrhea 61Apr 17, 2024
Congenital diarrhea 7 with exudative enteropathy1Sep 17, 2019
Congenital heart defects, multiple types, 31Sep 17, 2019
Congenital myasthenic syndrome 182Mar 31, 2021
Congenital omphalocele1Sep 17, 2019
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1Mar 31, 2021
Cornelia de Lange syndrome 31Sep 17, 2019
Cornelia de Lange syndrome 42Mar 31, 2021
Cornelia de Lange syndrome 51Sep 22, 2022
Coronary artery disease, autosomal dominant 21Sep 17, 2019
Corpus callosum, agenesis of1Sep 17, 2019
Costello syndrome1Sep 17, 2019
Cowden syndrome 51Apr 17, 2024
Cyanosis, transient neonatal1Apr 17, 2024
DYRK1A-related intellectual disability syndrome2Sep 22, 2022
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Sep 22, 2022
Delayed speech and language development1May 13, 2020
Developmental and epileptic encephalopathy, 111Sep 17, 2019
Developmental and epileptic encephalopathy, 461Mar 31, 2021
Developmental and epileptic encephalopathy, 51Mar 31, 2021
Developmental delay with variable intellectual impairment and behavioral abnormalities1Sep 17, 2019
Diabetes insipidus, nephrogenic, autosomal1Mar 31, 2021
Diabetes mellitus1Sep 17, 2019
Diaphragmatic hernia 31Sep 22, 2022
Diencephalic-mesencephalic junction dysplasia syndrome 11Sep 17, 2019
Diets-Jongmans syndrome1Mar 31, 2021
Dilated cardiomyopathy 1G4Apr 17, 2024
Dilated cardiomyopathy 1Y2Apr 17, 2024
Dilated cardiomyopathy 3B1Apr 17, 2024
Distal arthrogryposis type 5D1Mar 31, 2021
Distal myopathy with posterior leg and anterior hand involvement1Mar 31, 2021
Ehlers-danlos syndrome, arthrochalasia type, 21Mar 31, 2021
Epilepsy, early-onset, vitamin B6-dependent1Sep 17, 2019
Episodic ataxia type 21Mar 31, 2021
FG syndrome 21Sep 17, 2019
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1Mar 31, 2021
Familial cancer of breast1Apr 17, 2024
Familial dysautonomia1Sep 17, 2019
Familial hemophagocytic lymphohistiocytosis 21Apr 17, 2024
Female infertility due to zona pellucida defect1Apr 17, 2024
Fetal akinesia deformation sequence 31Apr 17, 2024
Floating-Harbor syndrome1Sep 22, 2022
Focal-onset seizure1Sep 17, 2019
Fraser syndrome 24Sep 22, 2022
Friedreich ataxia 11Apr 17, 2024
Generalized epilepsy with febrile seizures plus, type 11Sep 17, 2019
Genitopatellar syndrome2Sep 22, 2022
Geroderma osteodysplastica1Sep 17, 2019
Glaucoma 3A2Mar 31, 2021
Global developmental delay9Sep 22, 2022
Hearing impairment1Sep 17, 2019
Heart, malformation of1Sep 17, 2019
Hemochromatosis type 13Apr 17, 2024
Hepatosplenomegaly1Sep 22, 2022
Hereditary spastic paraplegia 301Apr 17, 2024
Heterotaxy, visceral, 1, X-linked1Sep 17, 2019
Heterotaxy, visceral, 4, autosomal1Apr 17, 2024
Heterotaxy, visceral, 5, autosomal1Mar 31, 2021
Hirschsprung disease, susceptibility to, 11Mar 31, 2021
Hirsutism1Sep 17, 2019
Hogue-Janssens syndrome 11Mar 31, 2021
Holt-Oram syndrome1Mar 31, 2021
Hurler syndrome1Mar 31, 2021
Hyper-IgM syndrome type 21Apr 17, 2024
Hypercholesterolemia, autosomal dominant, type B1Apr 17, 2024
Hyperinsulinemic hypoglycemia, familial, 21Mar 31, 2021
Hypertrophic cardiomyopathy 141Apr 17, 2024
Hypertrophic cardiomyopathy 22Apr 17, 2024
Hypertrophic cardiomyopathy 92Mar 31, 2021
Hypogonadotropic hypogonadism 3 with or without anosmia1Sep 17, 2019
Hypoplasia of the corpus callosum1Sep 17, 2019
Hypotonia with lactic acidemia and hyperammonemia1Mar 31, 2021
Imagawa-Matsumoto syndrome1Mar 31, 2021
Immunodeficiency2Sep 17, 2019
Infantile cerebellar-retinal degeneration1Sep 17, 2019
Infantile convulsions and choreoathetosis1Sep 17, 2019
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature2Mar 31, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Mar 31, 2021
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Sep 22, 2022
Intellectual disability3Sep 17, 2019
Intellectual disability, X-linked 12Sep 17, 2019
Intellectual disability, X-linked 1022Mar 31, 2021
Intellectual disability, X-linked 991Sep 17, 2019
Intellectual disability, X-linked 99, syndromic, female-restricted1Mar 31, 2021
Intellectual disability, X-linked, syndromic, Bain type1Mar 31, 2021
Intellectual disability, autosomal dominant 11Mar 31, 2021
Intellectual disability, autosomal dominant 141Sep 17, 2019
Intellectual disability, autosomal dominant 221Sep 22, 2022
Intellectual disability, autosomal dominant 291Sep 17, 2019
Intellectual disability, autosomal dominant 401Mar 31, 2021
Intellectual disability, autosomal dominant 51Mar 31, 2021
Intellectual disability, autosomal dominant 521Mar 31, 2021
Intellectual disability, autosomal dominant 581Sep 22, 2022
Intellectual disability, autosomal dominant 91Mar 31, 2021
Intellectual disability, autosomal recessive 442Mar 31, 2021
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome2Mar 31, 2021
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Sep 17, 2019
Joubert syndrome 101Jan 5, 2022
Joubert syndrome 143Sep 22, 2022
Joubert syndrome 51Apr 17, 2024
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Apr 17, 2024
KBG syndrome4Mar 31, 2021
Kabuki syndrome 17Apr 17, 2024
Kleefstra syndrome 11Sep 17, 2019
Koolen-de Vries syndrome3Apr 17, 2024
Landau-Kleffner syndrome1Mar 31, 2021
Lissencephaly due to TUBA1A mutation3Apr 17, 2024
Lymphatic malformation 61Sep 22, 2022
Lymphatic malformation 91Apr 17, 2024
MEHMO syndrome1Mar 31, 2021
Macrocephaly, acquired, with impaired intellectual development1Mar 31, 2021
Mandibulofacial dysostosis-microcephaly syndrome1Mar 31, 2021
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Mar 31, 2021
Microcephalic primordial dwarfism due to ZNF335 deficiency2Sep 17, 2019
Microcephaly 1, primary, autosomal recessive1Mar 31, 2021
Microcephaly 18, primary, autosomal dominant1Mar 31, 2021
Micrognathia1Sep 17, 2019
Micromelia2Sep 22, 2022
Migraine, familial hemiplegic, 21Apr 17, 2024
Mitochondrial complex III deficiency nuclear type 12Mar 31, 2021
Motor delay1Sep 17, 2019
Mowat-Wilson syndrome2Sep 22, 2022
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome3Mar 31, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 231Mar 31, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A23Sep 22, 2022
Myoclonic-astatic epilepsy1Sep 17, 2019
Nager syndrome1Mar 31, 2021
Neurodegeneration with brain iron accumulation 51Mar 31, 2021
Neurodevelopmental delay4Mar 31, 2021
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Mar 31, 2021
Neuronal ceroid lipofuscinosis 22Mar 31, 2021
Non-immune hydrops fetalis27Sep 22, 2022
Noonan syndrome 17Apr 17, 2024
Noonan syndrome 21Apr 17, 2024
Noonan syndrome 31Apr 17, 2024
Noonan syndrome 43Apr 17, 2024
Noonan syndrome 61Apr 17, 2024
Noonan syndrome 81Apr 17, 2024
Noonan syndrome-like disorder with loose anagen hair 11Sep 22, 2022
Osteogenesis imperfecta, perinatal lethal2Sep 22, 2022
Oto-palato-digital syndrome, type II2Sep 22, 2022
PCWH syndrome1Sep 17, 2019
PMM2-congenital disorder of glycosylation1Mar 31, 2021
Paramyotonia congenita of Von Eulenburg1Apr 17, 2024
Peroxisome biogenesis disorder 1A (Zellweger)1Mar 31, 2021
Peters plus syndrome1Sep 17, 2019
Pfeiffer syndrome1Apr 17, 2024
Pili torti-developmental delay-neurological abnormalities syndrome1Mar 31, 2021
Poirier-Bienvenu neurodevelopmental syndrome1Mar 31, 2021
Polycystic kidney disease, adult type1Apr 17, 2024
Polydactyly2Sep 17, 2019
Pontocerebellar hypoplasia type 92Mar 31, 2021
Pontocerebellar hypoplasia, type 111Mar 31, 2021
Postaxial polydactyly1May 13, 2020
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Sep 17, 2019
Pseudohypoparathyroidism1Sep 17, 2019
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41Apr 17, 2024
Pyruvate dehydrogenase E1-alpha deficiency3Apr 17, 2024
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Oct 3, 2018
Rett syndrome3Sep 17, 2019
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Mar 31, 2021
SIN3A-related intellectual disability syndrome due to a point mutation1Mar 31, 2021
Saethre-Chotzen syndrome1Mar 31, 2021
Salla disease2Mar 31, 2021
Schaaf-Yang syndrome2Mar 31, 2021
Schwartz-Jampel syndrome2Mar 31, 2021
Seizure2Sep 17, 2019
Seizures-scoliosis-macrocephaly syndrome1Sep 17, 2019
Severe combined immunodeficiency due to DCLRE1C deficiency1Apr 17, 2024
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1Sep 17, 2019
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome1Sep 22, 2022
Skeletal dysplasia and progressive central nervous system degeneration, lethal1Mar 31, 2021
Snijders Blok-Campeau syndrome2Mar 31, 2021
Speech apraxia1Sep 17, 2019
Spondyloperipheral dysplasia1Mar 31, 2021
Stereotypic movement disorder1Sep 22, 2022
Stickler syndrome type 11Sep 22, 2022
Supranuclear palsy, progressive, 11Apr 17, 2024
Supravalvar aortic stenosis1Mar 31, 2021
Surfactant metabolism dysfunction, pulmonary, 21Apr 17, 2024
Syndromic X-linked intellectual disability Siderius type1Mar 31, 2021
TELO2-related intellectual disability-neurodevelopmental disorder1Mar 31, 2021
Tetralogy of Fallot1Apr 17, 2024
Thanatophoric dysplasia type 12Sep 22, 2022
Tooth agenesis, selective, 71Sep 17, 2019
Trichohepatoenteric syndrome 11Sep 17, 2019
Trichothiodystrophy 3, photosensitive1Mar 31, 2021
Trichothiodystrophy 5, nonphotosensitive1Sep 17, 2019
Tricuspid atresia2Sep 17, 2019
Ullrich congenital muscular dystrophy 1A2Mar 31, 2021
VACTERL with hydrocephalus1Sep 17, 2019
Ventricular septal defect2Sep 17, 2019
Vertebral, cardiac, renal, and limb defects syndrome 11Mar 31, 2021
Visceral myopathy 11Mar 31, 2021
Wieacker-Wolff syndrome2Mar 31, 2021
Wiedemann-Steiner syndrome6Mar 31, 2021
X-linked Alport syndrome1Oct 12, 2022
X-linked chondrodysplasia punctata 11Sep 17, 2019
X-linked lissencephaly with abnormal genitalia1Mar 31, 2021
X-linked sideroblastic anemia 11Apr 17, 2024