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Génétique des Maladies du Développement (Hospices Civils de Lyon), HCL

General information

Génétique des Maladies du Développement, HCL
Hospices Civils de Lyon
CBPE, 59 Boulevard Pinel
Bron CEDEX
France - 69677

Organization ID: 506599

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 747

Gene

GeneSubmissionsLast Updated
ACTB2Jun 15, 2020
ACTG11Mar 9, 2021
ADAMTSL21Aug 4, 2022
ADARB11Sep 1, 2020
ADNP3Oct 17, 2018
AIFM11Feb 25, 2020
ALDH3A22Jun 29, 2021
ALDH4A11May 24, 2019
ALDH7A14Mar 25, 2022
ALG133Jun 26, 2024
ALMS12Jul 8, 2021
ANKRD113May 12, 2021
ARHGEF93May 24, 2019
ARID1B4Mar 9, 2020
ARID21May 23, 2022
ARMCX5-GPRASP22Oct 17, 2018
ASH1L1Mar 25, 2022
ASXL31Oct 17, 2018
ATP1A11Dec 29, 2021
ATP1A1-AS11Dec 29, 2021
ATP1A24Feb 8, 2021
ATP1A312Jun 24, 2024
ATP8A21Mar 25, 2020
BCL11A1Mar 9, 2020
BCL11B1Dec 16, 2020
BICRA1Feb 8, 2021
BRPF11Oct 17, 2018
C1orf1052Jun 3, 2020
CACNA1A8Nov 15, 2023
CACNA1E1Sep 27, 2021
CAMK2A1Mar 9, 2020
CASK2May 24, 2019
CCM21Mar 27, 2024
CDC421May 11, 2021
CDK133May 17, 2021
CDKL515May 6, 2024
CHAMP11Jul 2, 2021
CHD210May 23, 2024
CHD31May 23, 2022
CHD41Oct 17, 2018
CHD72Mar 14, 2022
CHRNA21May 24, 2019
CLCN42Sep 10, 2021
CLN81May 6, 2024
CNKSR23Apr 30, 2021
COL1A21Jun 7, 2022
COL3A11Jul 21, 2020
COQ91Mar 19, 2021
CRBN1Nov 15, 2021
CREBBP1Oct 17, 2018
CSTB1Sep 1, 2020
CTNNB11Mar 15, 2021
CUX23Dec 23, 2021
CYFIP24May 6, 2022
DCX1Oct 17, 2018
DDHD11Jun 3, 2021
DDX3X2Mar 9, 2021
DEPDC518May 7, 2024
DLG41Jun 22, 2021
DMD1Oct 17, 2018
DNMT3A3May 5, 2021
DSP1Mar 9, 2020
DYRK1A4Mar 9, 2022
EEF1A22May 24, 2019
EFTUD21Mar 9, 2020
EHMT15Oct 28, 2021
EMC12Oct 7, 2019
EMC1-AS12Oct 7, 2019
FARS21May 24, 2019
FBXO113Mar 11, 2021
FGF123Oct 26, 2022
FLNA2Mar 9, 2021
FOLR11Dec 28, 2021
FOXG13Jan 29, 2021
FOXP12Oct 17, 2018
FOXP21Oct 17, 2018
FZR11Mar 21, 2022
GABBR21Sep 24, 2020
GABRA14Oct 28, 2021
GABRA21Apr 5, 2022
GABRA51May 21, 2024
GABRB22May 16, 2024
GABRB33May 3, 2024
GABRG24May 7, 2024
GATAD2B2Oct 30, 2020
GH-LCR1Mar 31, 2022
GLB11Mar 9, 2022
GLRA11May 23, 2024
GLRB1May 16, 2024
GNAO15Jun 7, 2021
GNB14Jul 11, 2022
GNB51Mar 9, 2020
GPRASP12Oct 17, 2018
GPT21Feb 7, 2022
GRIA32May 20, 2022
GRIN13Jun 10, 2020
GRIN2A18Aug 11, 2022
GRIN2B7May 20, 2021
GRIN2D1May 24, 2019
GRIPAP11Feb 13, 2023
GRM12Mar 9, 2020
GRM61Oct 5, 2020
GRM71Apr 22, 2020
HBA-LCR1May 10, 2024
HDAC82Oct 22, 2020
HECW21Mar 5, 2021
HEXA1Mar 9, 2020
HIVEP21Oct 17, 2018
HNRNPU5Oct 24, 2023
HUWE11Mar 9, 2020
IL1RAPL12Oct 17, 2018
IQSEC25Oct 24, 2023
IRAK1BP11Feb 7, 2022
KANSL13Mar 9, 2020
KAT6A1Oct 17, 2018
KAT6B1Oct 17, 2018
KCNA26Jun 26, 2024
KCNB13Mar 15, 2022
KCNC11May 24, 2019
KCND31Feb 28, 2020
KCNJ102May 15, 2024
KCNMA12Aug 2, 2022
KCNMA1-AS11Aug 2, 2022
KCNQ238Jun 18, 2024
KCNQ33Jun 26, 2024
KCNQ51Mar 9, 2020
KCNT119Jun 24, 2024
KCNT21Sep 10, 2021
KDM1A1Jun 22, 2021
KDM5C3Oct 17, 2018
KDM6A2Dec 16, 2020
KLF9-DT1Sep 30, 2020
KLHL201Mar 30, 2020
KMT2A1Oct 17, 2018
KMT2B1Mar 9, 2020
KMT2D5Oct 17, 2018
KMT5B2Aug 2, 2021
L1CAM1Aug 12, 2021
LGI14Jun 18, 2024
LOC10272405824May 15, 2024
LOC1079880321Oct 17, 2018
LOC1124690071Mar 19, 2021
LOC1254677682Apr 22, 2020
LOC1268062531Jul 2, 2021
LOC1268067141Oct 17, 2018
LOC1268067981Jun 2, 2021
LOC1268622301May 24, 2019
LOC1268624791Jun 22, 2021
LOC1268632564Mar 9, 2020
LOC1287723431Jul 20, 2020
LOC1300026511Aug 18, 2021
LOC1300683081Oct 17, 2018
LRIG21Mar 9, 2020
MAN2B12May 6, 2021
MBD54May 20, 2022
MEA12Mar 9, 2020
MECP212May 7, 2024
MED123Oct 17, 2018
MED13L3Mar 9, 2020
MEF2C2Feb 13, 2023
MEIS21Jun 10, 2021
MID11Oct 30, 2020
MORC21Mar 9, 2020
MSH61Jun 12, 2020
MTO11Mar 9, 2020
MTOR2Aug 2, 2021
MVK1Dec 23, 2021
MVP-DT7May 6, 2024
MYT1L5Jan 9, 2023
NCDN1May 20, 2022
NCKAP12Mar 25, 2020
NEDD4L1May 24, 2019
NEXMIF5Mar 9, 2022
NFIX2Apr 4, 2022
NHLRC11May 24, 2019
NOTCH11May 20, 2022
NOVA21Aug 4, 2022
NPRL31May 10, 2024
NR2F12Mar 4, 2020
NR2F1-AS12Mar 4, 2020
NSD12Oct 17, 2018
NUDT21Jul 9, 2021
PACS13Mar 8, 2021
PACS21Jul 13, 2022
PC1Mar 9, 2020
PCDH1918May 23, 2024
PCGF21Mar 9, 2020
PDHA11Oct 17, 2018
PHF21A1Oct 17, 2018
PHGDH1Sep 11, 2023
PHIP2Feb 7, 2022
PIGA1May 24, 2019
PIGC2Jun 3, 2020
PITX12Jun 20, 2020
PLAA1Mar 19, 2020
PNPO1May 24, 2019
POGZ2Oct 17, 2018
POLR2A1Dec 29, 2021
PORCN2Nov 3, 2021
PPP2R1A2May 11, 2021
PPP2R5D2Mar 9, 2020
PPP3CA1Feb 25, 2020
PQBP11Oct 17, 2018
PRMT73Jan 17, 2022
PRRT28May 6, 2024
PTCHD11Oct 17, 2018
PURA1Mar 9, 2021
RAB33A1Feb 25, 2020
RAB3GAP21Oct 5, 2020
RAC11Mar 9, 2020
RAPSN1Mar 9, 2020
RHOBTB21May 2, 2023
RNASEH2B1May 21, 2021
RORB3May 30, 2024
RPS6KA32Oct 17, 2018
RS11Oct 17, 2018
RTTN2Aug 3, 2022
SATB22Oct 17, 2018
SCN1A48May 23, 2024
SCN1B4Nov 25, 2021
SCN2A24Sep 7, 2022
SCN3A1Apr 15, 2021
SCN4A1Mar 31, 2022
SCN8A10Jan 31, 2022
SEMA5A1Oct 17, 2018
SET1Feb 1, 2023
SETBP11Oct 17, 2018
SETD1A1Jan 3, 2022
SETD1B2Nov 19, 2021
SETD53Oct 17, 2018
SHANK22Jul 7, 2021
SHANK34May 6, 2021
SIK12Mar 15, 2022
SLC1A11Oct 17, 2018
SLC2A110Oct 24, 2023
SLC35A21May 24, 2019
SLC6A113Jun 24, 2024
SLC6A1-AS14Jun 24, 2024
SLC6A82Jul 2, 2021
SLC7A6OS1Jul 20, 2020
SLC9A61May 24, 2019
SLITRK61Mar 9, 2020
SMARCA42Oct 17, 2018
SMC1A2Jun 26, 2024
SMC31Oct 17, 2018
SMS1Oct 17, 2018
SNHG144Dec 28, 2021
SON3May 20, 2021
SOX111Oct 17, 2018
SOX52Oct 22, 2021
SOX61Jul 20, 2020
SPATA6L1Oct 17, 2018
SPTAN14May 12, 2021
STAG11Mar 9, 2020
STAMBP2Jul 2, 2021
STEEP11Apr 1, 2022
STX1B2Nov 26, 2021
STXBP110May 6, 2024
SYN12Nov 26, 2021
SYNGAP119May 7, 2024
SYNGAP1-AS113May 7, 2024
SZT21Sep 8, 2021
TCF202Nov 19, 2018
TCF44Aug 3, 2022
THOC21Mar 8, 2021
TRIO2Oct 17, 2018
TRIP123Nov 29, 2021
TRMT11Dec 22, 2021
TRPM31Sep 30, 2020
TRRAP1Mar 9, 2020
TUBA1A3Dec 23, 2021
TUBB1May 10, 2024
TUBB2A1Dec 6, 2021
UBE3A4Dec 28, 2021
UNC801Dec 28, 2021
UPF11Jun 30, 2020
USH2A1Oct 5, 2020
USP9X1Oct 17, 2018
WAC1Jun 15, 2020
WDR261Jun 8, 2021
WDR456Feb 11, 2022
WWOX1May 24, 2019
XRCC41Dec 23, 2021
YWHAG2Jul 16, 2021
ZBTB181Jul 20, 2020
ZBTB201Aug 4, 2022
ZDHHC91Oct 17, 2018
ZMYND111Mar 9, 2020
ZNF1481Jun 2, 2021
ZNF2922Jan 24, 2022
ZNF4541Oct 5, 2020

Condition

NameSubmissionsLast Updated
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3Oct 17, 2018
Abnormal CNS myelination1Sep 1, 2020
Abnormal facial shape1Aug 4, 2022
Acute myeloid leukemia4Oct 17, 2018
Adams-Oliver syndrome 51May 20, 2022
Aicardi-Goutieres syndrome 21May 21, 2021
Alternating hemiplegia of childhood 28Sep 17, 2021
Angelman syndrome3May 24, 2019
Atrial fibrillation, familial, 131Oct 17, 2018
Autism spectrum disorder due to AUTS2 deficiency1Oct 17, 2018
Autism, susceptibility to, 172Jul 7, 2021
Autism, susceptibility to, X-linked 41Oct 17, 2018
Autistic behavior4Dec 23, 2021
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Oct 17, 2018
Autosomal dominant nocturnal frontal lobe epilepsy1May 13, 2020
Autosomal dominant nocturnal frontal lobe epilepsy 41May 24, 2019
Autosomal dominant nocturnal frontal lobe epilepsy 55Oct 19, 2021
Autosomal recessive nonsyndromic hearing loss 281Oct 17, 2018
Autosomal recessive spinocerebellar ataxia 131Apr 23, 2019
Baraitser-Winter syndrome 12Jun 15, 2020
Baraitser-winter syndrome 21Mar 9, 2021
Becker muscular dystrophy1Oct 17, 2018
Bilateral multifocal epileptiform discharges1Apr 22, 2020
Bilateral tonic-clonic seizure2Dec 23, 2021
Blepharophimosis - intellectual disability syndrome, MKB type2Oct 17, 2018
Bosch-Boonstra-Schaaf optic atrophy syndrome2Mar 4, 2020
Brugada syndrome 51Oct 17, 2018
CHARGE syndrome2Mar 14, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Oct 17, 2018
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Jun 10, 2021
Cardiac valvular dysplasia, X-linked1Oct 17, 2018
Cerebellar atrophy2Oct 7, 2019
Cerebellar atrophy, developmental delay, and seizures1Oct 7, 2020
Cerebral cavernous malformation 21Mar 27, 2024
Cerebral dysmyelination1Sep 1, 2020
Childhood apraxia of speech1Oct 17, 2018
Childhood onset GLUT1 deficiency syndrome 26Jan 31, 2022
Christianson syndrome1May 24, 2019
Chromosome 2q32-q33 deletion syndrome2Oct 17, 2018
Clark-Baraitser syndrome3Nov 29, 2021
Coffin-Lowry syndrome2Oct 17, 2018
Coffin-Siris syndrome 13Oct 17, 2018
Coffin-Siris syndrome 61May 23, 2022
Cognitive impairment with or without cerebellar ataxia1Oct 17, 2018
Combined oxidative phosphorylation defect type 141May 24, 2019
Complex cortical dysplasia with other brain malformations 51Dec 6, 2021
Complex febrile seizure1Mar 17, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 17, 2021
Congenital muscular hypertrophy-cerebral syndrome1Oct 17, 2018
Congenital stationary night blindness 1B1Oct 5, 2020
Corneal dystrophy, Fuchs endothelial, 31Oct 17, 2018
Cornelia de Lange syndrome 31Oct 17, 2018
Cornelia de Lange syndrome 52Oct 22, 2020
Craniosynostosis syndrome1May 6, 2021
Creatine transporter deficiency1Apr 16, 2021
DYRK1A-related intellectual disability syndrome1Oct 17, 2018
Dandy-Walker syndrome1Oct 30, 2020
DeSanto-Shinawi syndrome due to WAC point mutation1Jun 15, 2020
Delayed gross motor development1Dec 2, 2021
Developmental and epileptic encephalopathy 948Aug 30, 2021
Developmental and epileptic encephalopathy, 1112Sep 7, 2022
Developmental and epileptic encephalopathy, 138Jan 31, 2022
Developmental and epileptic encephalopathy, 148Sep 29, 2020
Developmental and epileptic encephalopathy, 173May 24, 2019
Developmental and epileptic encephalopathy, 194Oct 28, 2021
Developmental and epileptic encephalopathy, 29Jul 16, 2021
Developmental and epileptic encephalopathy, 263Mar 15, 2022
Developmental and epileptic encephalopathy, 275May 20, 2021
Developmental and epileptic encephalopathy, 281May 24, 2019
Developmental and epileptic encephalopathy, 321May 24, 2019
Developmental and epileptic encephalopathy, 332May 24, 2019
Developmental and epileptic encephalopathy, 361May 24, 2019
Developmental and epileptic encephalopathy, 410Dec 24, 2021
Developmental and epileptic encephalopathy, 425Mar 29, 2022
Developmental and epileptic encephalopathy, 432May 24, 2019
Developmental and epileptic encephalopathy, 461May 24, 2019
Developmental and epileptic encephalopathy, 472Mar 29, 2022
Developmental and epileptic encephalopathy, 52Dec 6, 2020
Developmental and epileptic encephalopathy, 521Oct 17, 2018
Developmental and epileptic encephalopathy, 543Aug 3, 2022
Developmental and epileptic encephalopathy, 561Mar 26, 2021
Developmental and epileptic encephalopathy, 591Sep 24, 2020
Developmental and epileptic encephalopathy, 621Apr 15, 2021
Developmental and epileptic encephalopathy, 651Jun 25, 2021
Developmental and epileptic encephalopathy, 672Apr 1, 2021
Developmental and epileptic encephalopathy, 691Sep 27, 2021
Developmental and epileptic encephalopathy, 710Jul 9, 2022
Developmental and epileptic encephalopathy, 781Apr 5, 2022
Developmental and epileptic encephalopathy, 83May 24, 2019
Developmental and epileptic encephalopathy, 99Sep 17, 2021
Developmental malformations-deafness-dystonia syndrome1Oct 17, 2018
Dicarboxylic aminoaciduria1Oct 17, 2018
Dilated cardiomyopathy 3B1Oct 17, 2018
Duchenne muscular dystrophy1Oct 17, 2018
Dysequilibrium syndrome1Mar 25, 2020
Dystonia 91Oct 17, 2018
EEG with focal epileptiform discharges1Jul 19, 2021
Ehlers-Danlos syndrome, type 41Jul 21, 2020
Encephalopathy2Sep 1, 2020
Encephalopathy due to GLUT1 deficiency2Nov 26, 2021
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1Mar 19, 2021
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Nov 26, 2021
Epilepsy, familial focal, with variable foci 110Mar 28, 2022
Epilepsy, familial temporal lobe, 12Feb 16, 2021
Epilepsy, idiopathic generalized, susceptibility to, 122Aug 3, 2022
Epilepsy, idiopathic generalized, susceptibility to, 131Oct 17, 2018
Epilepsy, idiopathic generalized, susceptibility to, 151Oct 19, 2020
Epileptic encephalopathy6Mar 15, 2022
Episodic kinesigenic dyskinesia 12May 24, 2019
FG syndrome 12Oct 17, 2018
FG syndrome 21Oct 17, 2018
FG syndrome 41Oct 17, 2018
Febrile seizure (within the age range of 3 months to 6 years)1Apr 14, 2022
Febrile seizures, familial, 81May 20, 2022
Focal dermal hypoplasia1Nov 3, 2021
Focal-onset seizure3Mar 31, 2022
Frontometaphyseal dysplasia 11Oct 17, 2018
Generalized epilepsy with febrile seizures plus1Nov 26, 2021
Generalized epilepsy with febrile seizures plus, type 13May 24, 2019
Generalized epilepsy with febrile seizures plus, type 214May 6, 2022
Generalized epilepsy with febrile seizures plus, type 91May 24, 2019
Generalized myoclonic seizure1Jul 20, 2020
Global developmental delay47Mar 21, 2022
Glycosylphosphatidylinositol biosynthesis defect 161Jun 3, 2020
Hereditary cryohydrocytosis with reduced stomatin1Oct 17, 2018
Hereditary spastic paraplegia 281Jun 3, 2021
Heterotopia, periventricular, X-linked dominant2Mar 9, 2021
Hogue-Janssens syndrome 11Oct 17, 2018
Houge-Janssens syndrome 22May 11, 2021
Hurler syndrome1Jun 20, 2020
Hyperprolinemia type 21May 24, 2019
Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 17, 2018
Hypotonia2Jul 11, 2022
Infantile convulsions and choreoathetosis1Apr 27, 2020
Infantile spasms1Mar 16, 2020
Intellectual developmental disorder 621Jun 22, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2Jun 12, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis1Oct 17, 2018
Intellectual developmental disorder with seizures and language delay2Nov 19, 2021
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Dec 16, 2020
Intellectual developmental disorder, autosomal dominant 641Nov 22, 2021
Intellectual developmental disorder, autosomal recessive 681Dec 22, 2021
Intellectual disability55Feb 1, 2023
Intellectual disability, X-linked 14Jan 27, 2021
Intellectual disability, X-linked 1021Mar 9, 2021
Intellectual disability, X-linked 1071Apr 1, 2022
Intellectual disability, X-linked 192Oct 17, 2018
Intellectual disability, X-linked 212Oct 17, 2018
Intellectual disability, X-linked 492Sep 10, 2021
Intellectual disability, X-linked 991Oct 17, 2018
Intellectual disability, X-linked 99, syndromic, female-restricted1Oct 17, 2018
Intellectual disability, X-linked, syndromic, Houge type1Apr 30, 2021
Intellectual disability, autosomal dominant 12Sep 27, 2021
Intellectual disability, autosomal dominant 162Oct 17, 2018
Intellectual disability, autosomal dominant 201Oct 17, 2018
Intellectual disability, autosomal dominant 271Oct 17, 2018
Intellectual disability, autosomal dominant 291Oct 17, 2018
Intellectual disability, autosomal dominant 381Oct 17, 2018
Intellectual disability, autosomal dominant 421Nov 29, 2021
Intellectual disability, autosomal dominant 431Oct 17, 2018
Intellectual disability, autosomal dominant 515Mar 15, 2021
Intellectual disability, autosomal dominant 61Oct 17, 2018
Intellectual disability, autosomal dominant 83Jun 10, 2020
Intellectual disability, autosomal recessive 21Nov 15, 2021
Intellectual disability, mild1Dec 2, 2021
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3Oct 17, 2018
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Oct 17, 2018
Intellectual disability-severe speech delay-mild dysmorphism syndrome2Oct 17, 2018
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1Oct 17, 2018
KBG syndrome2Oct 17, 2018
Kabuki syndrome 14Oct 17, 2018
Kabuki syndrome 22Dec 16, 2020
Kleefstra syndrome 15Oct 28, 2021
Koolen-de Vries syndrome2Oct 17, 2018
Lafora disease1May 24, 2019
Lamb-Shaffer syndrome2Oct 22, 2021
Landau-Kleffner syndrome16Jul 4, 2022
Lissencephaly due to TUBA1A mutation3Dec 23, 2021
Lissencephaly type 1 due to doublecortin gene mutation1Oct 17, 2018
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1May 6, 2021
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1May 11, 2021
Malan overgrowth syndrome2Apr 4, 2022
Malignant migrating partial seizures of infancy1Jan 25, 2021
Marshall-Smith syndrome1Oct 17, 2018
Martsolf syndrome1Oct 5, 2020
Melnick-Needles syndrome1Oct 17, 2018
Mevalonic aciduria1Dec 23, 2021
Microcephaly5Aug 3, 2022
Microcephaly-capillary malformation syndrome2Jul 2, 2021
Micrognathia1Jun 16, 2020
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Oct 17, 2018
Migraine, familial hemiplegic, 21Feb 8, 2021
Moderate global developmental delay1Dec 28, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 21May 24, 2019
Myoclonic absence seizure1Jun 26, 2020
Myoclonic-astatic epilepsy11Jul 19, 2022
Myoclonus1Jul 15, 2022
Neonatal hypotonia1May 5, 2021
Neu-Laxova syndrome 11Sep 11, 2023
Neurodegeneration with brain iron accumulation 54Feb 11, 2022
Neurodevelopmental delay1Sep 10, 2021
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Mar 5, 2021
Neurodevelopmental disorder with infantile epileptic spasms1May 20, 2022
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive1Oct 17, 2018
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Mar 19, 2020
Nicolaides-Baraitser syndrome1Oct 17, 2018
Osteogenesis imperfecta, perinatal lethal1Jun 7, 2022
Oto-palato-digital syndrome, type I1Oct 17, 2018
Oto-palato-digital syndrome, type II1Oct 17, 2018
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Oct 5, 2020
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Mar 9, 2021
Paroxysmal dystonia1Sep 30, 2020
Periventricular nodular heterotopia 71May 24, 2019
Phelan-McDermid syndrome2Jul 20, 2020
Pitt-Hopkins syndrome1Oct 17, 2018
Polymicrogyria2Jul 26, 2018
Progressive myoclonic epilepsy type 71May 24, 2019
Pyridoxal phosphate-responsive seizures1May 24, 2019
Pyridoxine-dependent epilepsy2Mar 25, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Oct 17, 2018
Renpenning syndrome1Oct 17, 2018
Rett syndrome8Jun 25, 2021
Rett syndrome, congenital variant3Jan 29, 2021
Rhabdoid tumor predisposition syndrome 22Oct 17, 2018
Rubinstein-Taybi syndrome due to CREBBP mutations1Oct 17, 2018
SLC35A2-congenital disorder of glycosylation1May 24, 2019
Schinzel-Giedion syndrome1Oct 17, 2018
Schizophrenia2Feb 7, 2022
Schizophrenia 151Oct 17, 2018
Schizophrenia 181Oct 17, 2018
Schuurs-Hoeijmakers syndrome1Oct 17, 2018
See cases6Jun 8, 2023
Seizure127Jul 8, 2024
Seizures, benign familial infantile, 23May 24, 2019
Seizures, benign familial infantile, 39May 20, 2021
Seizures, benign familial infantile, 52Jan 5, 2021
Seizures, benign familial neonatal, 116Mar 9, 2022
Seizures, benign familial neonatal, 21May 24, 2019
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Oct 17, 2018
Severe global developmental delay1Dec 29, 2021
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Oct 17, 2018
Severe intellectual disability-progressive spastic diplegia syndrome1Mar 15, 2021
Severe myoclonic epilepsy in infancy17Jul 1, 2022
Severe neonatal-onset encephalopathy with microcephaly2May 24, 2019
Short stature, microcephaly, and endocrine dysfunction1Dec 23, 2021
Short stature-brachydactyly-obesity-global developmental delay syndrome1Jan 17, 2022
Sifrim-Hitz-Weiss syndrome1Oct 17, 2018
Simpson-Golabi-Behmel syndrome type 11Oct 17, 2018
Sjögren-Larsson syndrome2Jun 29, 2021
Skraban-Deardorff syndrome1Jun 8, 2021
Smith-Magenis syndrome1Oct 17, 2018
Snijders Blok-Campeau syndrome1May 23, 2022
Sotos syndrome2Oct 17, 2018
Specific learning disability1Jul 16, 2021
Spondyloepiphyseal dysplasia1Mar 9, 2022
Syndromic X-linked intellectual disability Claes-Jensen type3Oct 17, 2018
Syndromic X-linked intellectual disability Lubs type1Oct 17, 2018
Syndromic X-linked intellectual disability Najm type2May 24, 2019
Syndromic X-linked intellectual disability Raymond type1Oct 17, 2018
Tatton-Brown-Rahman overgrowth syndrome2Oct 17, 2018
Terminal osseous dysplasia-pigmentary defects syndrome1Oct 17, 2018
Transposition of the great arteries, dextro-looped2Oct 17, 2018
Usher syndrome type 2A1Oct 5, 2020
Wiedemann-Steiner syndrome1Oct 17, 2018
Wilms tumor 11Oct 17, 2018
X-linked intellectual disability with marfanoid habitus2Oct 17, 2018
X-linked intellectual disability, Cantagrel type4Nov 22, 2021
X-linked intellectual disability-psychosis-macroorchidism syndrome2Jan 15, 2021
ZTTK syndrome2Dec 6, 2020