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: 593

Gene

GeneSubmissionsLast Updated
ACTB2Jun 15, 2020
ACTG11Mar 9, 2021
ADARB11Sep 1, 2020
ADNP3Oct 17, 2018
AIFM11Feb 25, 2020
ALDH3A22Jun 29, 2021
ALDH4A11May 24, 2019
ALDH7A11May 13, 2020
ALG132Oct 29, 2020
ALMS12Jul 8, 2021
ANKRD113May 12, 2021
ARHGEF93May 24, 2019
ARID1B4Mar 9, 2020
ARMCX5-GPRASP22Oct 17, 2018
ASXL31Oct 17, 2018
ATP1A11Dec 29, 2021
ATP1A1-AS11Dec 29, 2021
ATP1A24Feb 8, 2021
ATP1A39Sep 17, 2021
ATP8A21Mar 25, 2020
BCL11A1Mar 9, 2020
BCL11B1Dec 16, 2020
BICRA1Feb 8, 2021
BRPF11Oct 17, 2018
C1orf1052Jun 3, 2020
CACNA1A6Dec 2, 2021
CACNA1E1Sep 27, 2021
CAMK2A1Mar 9, 2020
CASK2May 24, 2019
CDC421May 11, 2021
CDK133May 17, 2021
CDKL512Jul 16, 2021
CHAMP11Jul 2, 2021
CHD29Aug 30, 2021
CHD41Oct 17, 2018
CHD71Oct 17, 2018
CHRNA21May 24, 2019
CLCN42Sep 10, 2021
CNKSR23Apr 30, 2021
COL3A11Jul 21, 2020
COQ91Mar 19, 2021
CRBN1Nov 15, 2021
CREBBP1Oct 17, 2018
CSTB1Sep 1, 2020
CTNNB11Mar 15, 2021
CUX23Dec 23, 2021
CYFIP23Jun 25, 2021
DCX1Oct 17, 2018
DDHD11Jun 3, 2021
DDX3X2Mar 9, 2021
DEPDC510Jan 11, 2022
DLG41Jun 22, 2021
DMD1Oct 17, 2018
DNMT3A3May 5, 2021
DSP1Mar 9, 2020
DYRK1A3Jul 20, 2020
EEF1A22May 24, 2019
EFTUD21Mar 9, 2020
EHMT15Oct 28, 2021
EMC12Oct 7, 2019
EMC1-AS12Oct 7, 2019
FARS21May 24, 2019
FBXO113Mar 11, 2021
FGF121May 24, 2019
FLNA2Mar 9, 2021
FOLR11Dec 28, 2021
FOXG13Jan 29, 2021
FOXP12Oct 17, 2018
FOXP21Oct 17, 2018
GABBR21Sep 24, 2020
GABRA14Oct 28, 2021
GABRB32May 24, 2019
GABRG21Feb 28, 2020
GATAD2B2Oct 30, 2020
GH-LCR1Feb 25, 2020
GNAO15Jun 7, 2021
GNB13Nov 29, 2021
GNB51Mar 9, 2020
GPRASP12Oct 17, 2018
GRIA31Mar 9, 2020
GRIN13Jun 10, 2020
GRIN2A16Jun 10, 2020
GRIN2B7May 20, 2021
GRIN2D1May 24, 2019
GRM12Mar 9, 2020
GRM61Oct 5, 2020
GRM71Apr 22, 2020
HDAC82Oct 22, 2020
HECW21Mar 5, 2021
HEXA1Mar 9, 2020
HIVEP21Oct 17, 2018
HNRNPU3Mar 3, 2021
HUWE11Mar 9, 2020
IL1RAPL12Oct 17, 2018
IQSEC24Jan 27, 2021
KANSL13Mar 9, 2020
KAT6A1Oct 17, 2018
KAT6B1Oct 17, 2018
KCNA21May 24, 2019
KCNB12Oct 17, 2018
KCNC11May 24, 2019
KCND31Feb 28, 2020
KCNMA11Oct 7, 2020
KCNQ225Jul 16, 2021
KCNQ31May 24, 2019
KCNQ51Mar 9, 2020
KCNT115Oct 19, 2021
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
LGI11Feb 16, 2021
LOC1001307981Oct 5, 2020
LOC10272405818Dec 23, 2021
LOC1079880321Oct 17, 2018
LOC1124690071Mar 19, 2021
LRIG21Mar 9, 2020
MAN2B12May 6, 2021
MBD53Dec 23, 2021
MEA12Mar 9, 2020
MECP210Jun 25, 2021
MED123Oct 17, 2018
MED13L3Mar 9, 2020
MEF2C1Oct 17, 2018
MEIS21Jun 10, 2021
MID11Oct 30, 2020
MORC21Mar 9, 2020
MTO11Mar 9, 2020
MTOR2Aug 2, 2021
MVK1Dec 23, 2021
NCKAP12Mar 25, 2020
NEDD4L1May 24, 2019
NEXMIF4Nov 22, 2021
NFIX1Oct 17, 2018
NHLRC11May 24, 2019
NR2F12Mar 4, 2020
NSD12Oct 17, 2018
NUDT21Jul 9, 2021
PACS13Mar 8, 2021
PC1Mar 9, 2020
PCDH1912Sep 17, 2021
PCGF21Mar 9, 2020
PDHA11Oct 17, 2018
PHF21A1Oct 17, 2018
PHIP1Oct 5, 2020
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
PRMT71Dec 28, 2021
PRRT27Sep 14, 2020
PTCHD11Oct 17, 2018
PURA1Mar 9, 2021
RAB33A1Feb 25, 2020
RAB3GAP21Oct 5, 2020
RAC11Mar 9, 2020
RAPSN1Mar 9, 2020
RNASEH2B1May 21, 2021
RORB1Oct 19, 2020
RPS6KA32Oct 17, 2018
RS11Oct 17, 2018
SATB22Oct 17, 2018
SCN1A37Dec 23, 2021
SCN1B4Nov 25, 2021
SCN2A20May 20, 2021
SCN3A1Apr 15, 2021
SCN4A1Feb 25, 2020
SCN8A9Sep 27, 2021
SEMA5A1Oct 17, 2018
SETBP11Oct 17, 2018
SETD1A1Jan 3, 2022
SETD1B2Nov 19, 2021
SETD53Oct 17, 2018
SHANK22Jul 7, 2021
SHANK34May 6, 2021
SIK11Jan 27, 2020
SLC1A11Oct 17, 2018
SLC2A17Dec 22, 2021
SLC35A21May 24, 2019
SLC6A110Dec 23, 2021
SLC6A1-AS13Dec 23, 2021
SLC6A82Jul 2, 2021
SLC7A6OS1Jul 20, 2020
SLC9A61May 24, 2019
SLITRK61Mar 9, 2020
SMARCA42Oct 17, 2018
SMC1A1Oct 17, 2018
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
STX1B2Nov 26, 2021
STXBP19Dec 24, 2021
SYN12Nov 26, 2021
SYNGAP116Mar 15, 2021
SZT21Sep 8, 2021
TCF202Nov 19, 2018
TCF43Dec 2, 2021
THOC21Mar 8, 2021
TRIO2Oct 17, 2018
TRIP123Nov 29, 2021
TRMT11Dec 22, 2021
TRPM31Sep 30, 2020
TRRAP1Mar 9, 2020
TUBA1A3Dec 23, 2021
TUBB2A1Dec 6, 2021
UBE3A4Dec 28, 2021
UNC801Dec 28, 2021
UPF11Jun 30, 2020
USH2A1Oct 5, 2020
USP9X1Oct 17, 2018
WAC1Jun 15, 2020
WDR261Jun 8, 2021
WDR455Mar 9, 2020
WWOX1May 24, 2019
XRCC41Dec 23, 2021
YWHAG2Jul 16, 2021
ZBTB181Jul 20, 2020
ZDHHC91Oct 17, 2018
ZMYND111Mar 9, 2020
ZNF1481Jun 2, 2021
ZNF2921Nov 22, 2021

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome2Jul 20, 2020
Abnormal CNS myelination1Sep 1, 2020
Acute myeloid leukemia4Oct 17, 2018
Aicardi Goutieres syndrome 21May 21, 2021
Alternating hemiplegia of childhood 28Sep 17, 2021
Angelman syndrome3May 24, 2019
Arboleda-Tham syndrome1Oct 17, 2018
Atrial fibrillation, familial, 131Oct 17, 2018
Autism 172Jul 7, 2021
Autism, susceptibility to, X-linked 41Oct 17, 2018
Autistic behavior4Dec 23, 2021
Autosomal dominant intellectual developmental disorder 641Nov 22, 2021
Autosomal dominant nocturnal frontal lobe epilepsy1May 13, 2020
Bainbridge-Ropers syndrome1Oct 17, 2018
Baraitser-Winter Syndrome 21Mar 9, 2021
Baraitser-Winter syndrome 12Jun 15, 2020
Becker muscular dystrophy1Oct 17, 2018
Benign familial neonatal seizures 114Sep 17, 2021
Benign familial neonatal seizures 21May 24, 2019
Bilateral multifocal epileptiform discharges1Apr 22, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome2Mar 4, 2020
Brugada syndrome 51Oct 17, 2018
CHARGE association1Oct 17, 2018
Cardiac valvular dysplasia, X-linked1Oct 17, 2018
Cerebellar atrophy2Oct 7, 2019
Cerebellar atrophy, developmental delay, and seizures1Oct 7, 2020
Cerebral dysmyelination1Sep 1, 2020
Christianson syndrome1May 24, 2019
Chromosome 2q32-q33 deletion syndrome2Oct 17, 2018
Clark-Baraitser syndrome3Nov 29, 2021
Cleft palate, cardiac defects, and mental retardation1Jun 10, 2021
Coenzyme Q10 deficiency, primary, 51Mar 19, 2021
Coffin-Lowry syndrome2Oct 17, 2018
Coffin-Siris syndrome 13Oct 17, 2018
Cognitive impairment with or without cerebellar ataxia1Oct 17, 2018
Combined oxidative phosphorylation deficiency 141May 24, 2019
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, type 1B1Oct 5, 2020
Corneal dystrophy, Fuchs endothelial, 31Oct 17, 2018
Cornelia de Lange syndrome 31Oct 17, 2018
Cornelia de Lange syndrome 52Oct 22, 2020
Cortical dysplasia, complex, with other brain malformations 51Dec 6, 2021
Craniosynostosis syndrome1May 6, 2021
Creatine transporter deficiency1Apr 16, 2021
Dandy-Walker syndrome1Oct 30, 2020
Deafness, autosomal recessive 281Oct 17, 2018
Deficiency of pyrroline-5-carboxylate reductase1May 24, 2019
Delayed gross motor development1Dec 2, 2021
Desanto-shinawi syndrome1Jun 15, 2020
Developmental and epileptic encephalopathy 948Aug 30, 2021
Developmental and epileptic encephalopathy, 424Jun 29, 2021
Developmental and epileptic encephalopathy, 561Mar 26, 2021
Developmental and epileptic encephalopathy, 651Jun 25, 2021
Developmental and epileptic encephalopathy, 672Apr 1, 2021
Developmental and epileptic encephalopathy, 691Sep 27, 2021
Developmental delay, intellectual disability, obesity, and dysmorphic features1Oct 5, 2020
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
Early infantile epileptic encephalopathy 1111Oct 20, 2020
Early infantile epileptic encephalopathy 136Sep 27, 2021
Early infantile epileptic encephalopathy 148Sep 29, 2020
Early infantile epileptic encephalopathy 173May 24, 2019
Early infantile epileptic encephalopathy 29Jul 16, 2021
Early infantile epileptic encephalopathy 410Dec 24, 2021
Early infantile epileptic encephalopathy 52Dec 6, 2020
Early infantile epileptic encephalopathy 591Sep 24, 2020
Early infantile epileptic encephalopathy 621Apr 15, 2021
Early infantile epileptic encephalopathy 78Jul 21, 2020
Early infantile epileptic encephalopathy 83May 24, 2019
Early infantile epileptic encephalopathy 99Sep 17, 2021
Ehlers-Danlos syndrome, type 41Jul 21, 2020
Encephalopathy2Sep 1, 2020
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Nov 26, 2021
Epilepsy, familial focal, with variable foci 18Jan 11, 2022
Epilepsy, focal, with speech disorder and with or without mental retardation15Jun 10, 2020
Epilepsy, idiopathic generalized, susceptibility to, 121Oct 17, 2018
Epilepsy, idiopathic generalized, susceptibility to, 151Oct 19, 2020
Epilepsy, juvenile myoclonic 51Oct 17, 2018
Epilepsy, nocturnal frontal lobe, 55Oct 19, 2021
Epilepsy, nocturnal frontal lobe, type 41May 24, 2019
Epilepsy, progressive myoclonic 71May 24, 2019
Epileptic encephalopathy4Dec 28, 2021
Epileptic encephalopathy, early infantile, 194Oct 28, 2021
Epileptic encephalopathy, early infantile, 262Oct 17, 2018
Epileptic encephalopathy, early infantile, 275May 20, 2021
Epileptic encephalopathy, early infantile, 281May 24, 2019
Epileptic encephalopathy, early infantile, 321May 24, 2019
Epileptic encephalopathy, early infantile, 332May 24, 2019
Epileptic encephalopathy, early infantile, 361May 24, 2019
Epileptic encephalopathy, early infantile, 432May 24, 2019
Epileptic encephalopathy, early infantile, 461May 24, 2019
Epileptic encephalopathy, early infantile, 471May 24, 2019
Epileptic encephalopathy, early infantile, 521Oct 17, 2018
Epileptic encephalopathy, early infantile, 542Mar 3, 2021
Episodic kinesigenic dyskinesia 12May 24, 2019
FG syndrome 12Oct 17, 2018
FG syndrome 21Oct 17, 2018
FG syndrome 41Oct 17, 2018
Familial hemiplegic migraine type 21Feb 8, 2021
Familial temporal lobe epilepsy 12Feb 16, 2021
Focal dermal hypoplasia1Nov 3, 2021
Focal-onset seizure1Feb 25, 2020
Frontometaphyseal dysplasia 11Oct 17, 2018
GLUT1 deficiency syndrome 12Nov 26, 2021
GLUT1 deficiency syndrome 25Dec 22, 2021
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 213Nov 15, 2021
Generalized epilepsy with febrile seizures plus, type 91May 24, 2019
Generalized myoclonic seizure1Jul 20, 2020
Generalized tonic-clonic seizures2Dec 23, 2021
Global developmental delay46Sep 10, 2021
Glycosylphosphatidylinositol biosynthesis defect 161Jun 3, 2020
Helsmoortel-Van der Aa Syndrome3Oct 17, 2018
Hurler syndrome1Jun 20, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 17, 2018
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 recessive 681Dec 22, 2021
Intellectual disability42Dec 29, 2021
Intellectual disability, X-linked 212Oct 17, 2018
Intellectual disability, X-linked, syndromic, Houge type1Apr 30, 2021
Intellectual disability, mild1Dec 2, 2021
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
Lissencephaly due to TUBA1A mutation3Dec 23, 2021
Lissencephaly, X-linked1Oct 17, 2018
Malignant migrating partial seizures of infancy1Jan 25, 2021
Marshall-Smith syndrome1Oct 17, 2018
Martsolf syndrome1Oct 5, 2020
Melnick-Needles syndrome1Oct 17, 2018
Mental retardation 49, X-linked2Sep 10, 2021
Mental retardation and distinctive facial features with or without cardiac defects2Oct 17, 2018
Mental retardation with language impairment and with or without autistic features2Oct 17, 2018
Mental retardation, X-linked 14Jan 27, 2021
Mental retardation, X-linked 1021Mar 9, 2021
Mental retardation, X-linked 192Oct 17, 2018
Mental retardation, X-linked 984Nov 22, 2021
Mental retardation, X-linked 991Oct 17, 2018
Mental retardation, X-linked 99, syndromic, female-restricted1Oct 17, 2018
Mental retardation, X-linked, syndromic 132Jan 15, 2021
Mental retardation, X-linked, syndromic, Raymond type1Oct 17, 2018
Mental retardation, autosomal dominant 12Sep 27, 2021
Mental retardation, autosomal dominant 162Oct 17, 2018
Mental retardation, autosomal dominant 181Oct 17, 2018
Mental retardation, autosomal dominant 191Mar 15, 2021
Mental retardation, autosomal dominant 233Oct 17, 2018
Mental retardation, autosomal dominant 261Oct 17, 2018
Mental retardation, autosomal dominant 271Oct 17, 2018
Mental retardation, autosomal dominant 291Oct 17, 2018
Mental retardation, autosomal dominant 311Mar 9, 2021
Mental retardation, autosomal dominant 351Oct 17, 2018
Mental retardation, autosomal dominant 362May 11, 2021
Mental retardation, autosomal dominant 381Oct 17, 2018
Mental retardation, autosomal dominant 421Nov 29, 2021
Mental retardation, autosomal dominant 431Oct 17, 2018
Mental retardation, autosomal dominant 441Oct 17, 2018
Mental retardation, autosomal dominant 515Mar 15, 2021
Mental retardation, autosomal dominant 61Oct 17, 2018
Mental retardation, autosomal dominant 71Oct 17, 2018
Mental retardation, autosomal recessive 21Nov 15, 2021
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Oct 17, 2018
Mental retardation, syndromic, Claes-Jensen type, X-linked3Oct 17, 2018
Mevalonic aciduria1Dec 23, 2021
Microcephaly3Sep 1, 2020
Microcephaly-capillary malformation syndrome2Jul 2, 2021
Micrognathia1Jun 16, 2020
Moderate global developmental delay1Dec 28, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 21May 24, 2019
Myoclonic absence seizure1Jun 26, 2020
Myoclonic-atonic epilepsy10Dec 23, 2021
Neonatal hypotonia1May 5, 2021
Neurodegeneration with brain iron accumulation 53May 24, 2019
Neurodevelopmental delay1Sep 10, 2021
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Mar 5, 2021
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant3Jun 10, 2020
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
Ohdo syndrome, X-linked2Oct 17, 2018
Oto-palato-digital syndrome, type I1Oct 17, 2018
Oto-palato-digital syndrome, type II1Oct 17, 2018
Paroxysmal dystonia1Sep 30, 2020
Periventricular nodular heterotopia 12Mar 9, 2021
Periventricular nodular heterotopia 71May 24, 2019
Pitt-Hopkins syndrome1Oct 17, 2018
Polymicrogyria2Jul 26, 2018
Pyridoxal phosphate-responsive seizures1May 24, 2019
Pyruvate dehydrogenase E1-alpha deficiency1Oct 17, 2018
Renpenning syndrome 11Oct 17, 2018
Rett syndrome8Jun 25, 2021
Rett syndrome, congenital variant3Jan 29, 2021
Rhabdoid tumor predisposition syndrome 22Oct 17, 2018
Rubinstein-Taybi syndrome 11Oct 17, 2018
SLC35A2-CDG1May 24, 2019
Schinzel-Giedion syndrome1Oct 17, 2018
Schizophrenia1Jan 3, 2022
Schizophrenia 151Oct 17, 2018
Schizophrenia 181Oct 17, 2018
Schuurs-hoeijmakers syndrome1Oct 17, 2018
Seizures42Dec 28, 2021
Seizures, benign familial infantile, 23May 24, 2019
Seizures, benign familial infantile, 39May 20, 2021
Seizures, benign familial infantile, 52Jan 5, 2021
Severe global developmental delay1Dec 29, 2021
Severe myoclonic epilepsy in infancy15Dec 23, 2021
Severe neonatal-onset encephalopathy with microcephaly2May 24, 2019
Short stature, microcephaly, and endocrine dysfunction1Dec 23, 2021
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-Kingsmore syndrome1May 6, 2021
Smith-Magenis syndrome1Oct 17, 2018
Sotos syndrome 12Oct 17, 2018
Sotos syndrome 21Oct 17, 2018
Spastic paraplegia 28, autosomal recessive1Jun 3, 2021
Specific learning disability1Jul 16, 2021
Speech-language disorder 11Oct 17, 2018
Spinocerebellar ataxia, autosomal recessive 131Apr 23, 2019
Stomatin-deficient cryohydrocytosis with neurologic defects1Oct 17, 2018
Syndromic X-linked intellectual disability Lubs type1Oct 17, 2018
Syndromic X-linked intellectual disability Najm type2May 24, 2019
Takenouchi-Kosaki syndrome1May 11, 2021
Tatton-Brown-rahman syndrome2Oct 17, 2018
Terminal osseous dysplasia1Oct 17, 2018
Transposition of the great arteries, dextro-looped 12Oct 17, 2018
Usher syndrome, type 2A1Oct 5, 2020
White-sutton syndrome2Oct 17, 2018
Wiedemann-Steiner syndrome1Oct 17, 2018
Wilms tumor 11Oct 17, 2018
X-linked mental retardation with marfanoid habitus syndrome2Oct 17, 2018
ZTTK syndrome2Dec 6, 2020
Support Center