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Daryl Scott Lab (Baylor College of Medicine)

General information

Daryl Scott Lab
Baylor College of Medicine
R813, One Baylor Plaza, BCM225
Houston
Texas
United States - 77030
https://www.bcm.edu/people/view/daryl-scott-m-d-ph-d/b174cc0d-ffed-11e2-be68-080027880ca6
Organization ID: 505993

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 456

Gene

GeneSubmissionsLast Updated
ABCC22Aug 25, 2022
ABCD11Nov 13, 2023
ABHD14A-ACY11Nov 13, 2023
ABL11Nov 12, 2020
ACO21Apr 6, 2020
ACTB2Nov 13, 2023
ACY11Nov 13, 2023
ADAMTSL22May 16, 2022
ADAT31May 16, 2022
ADNP2May 16, 2022
AFF41Nov 13, 2023
ALAS21Aug 25, 2022
ALDH3A21May 16, 2022
ALG123Nov 12, 2020
AMER11May 16, 2022
ANK32Nov 13, 2023
ANKRD111Nov 12, 2020
AOPEP1May 16, 2022
APOB1May 16, 2022
ARID1A4Aug 25, 2022
ASIC4-AS11May 16, 2022
ASTN21Apr 12, 2023
ASXL11Nov 13, 2023
ATP7A2May 16, 2022
B3GALT62Nov 12, 2020
BAZ2B13Jun 13, 2023
BBS12May 16, 2022
BCOR2Nov 13, 2023
BRAT12Nov 13, 2023
BRCA23May 16, 2022
BRIP11Nov 13, 2023
C2CD32Nov 13, 2023
CABP21Nov 13, 2023
CACNA1C1May 16, 2022
CAD1Aug 25, 2022
CASR1Aug 25, 2022
CC2D1A2Aug 25, 2022
CCDC1031Apr 11, 2023
CCDC221Nov 13, 2023
CCNH1Nov 12, 2020
CCNQ1May 16, 2022
CD961Apr 11, 2023
CDH11May 16, 2022
CDK101May 16, 2022
CDK131Jan 27, 2022
CFH1Nov 13, 2023
CHAMP11Jan 27, 2022
CHD77Nov 13, 2023
CHD81Jan 27, 2022
CHRNG1Jan 27, 2022
CLTRN1Oct 2, 2019
CNGB31Nov 13, 2023
COL18A11Nov 13, 2023
COL4A11Apr 11, 2023
CREBBP4Nov 13, 2023
CRPPA2Nov 13, 2023
CSMD11Apr 12, 2023
CSNK2A31May 16, 2022
CTNNB11Nov 13, 2023
CUL4B1Nov 13, 2023
DDX3X2May 16, 2022
DHCR72Nov 13, 2023
DISP11Aug 25, 2022
DKC11Dec 8, 2023
DNAH111Apr 11, 2023
DPH11Apr 19, 2024
DTNA1Apr 11, 2023
EDAR1Aug 25, 2022
EFTUD22Apr 11, 2023
EHMT11May 16, 2022
EP3003May 16, 2022
EXT11Aug 25, 2022
FANCC1May 16, 2022
FANCD21Nov 13, 2023
FANCI1Nov 12, 2020
FANCL1Aug 25, 2022
FANCM1Apr 11, 2023
FGFR11Nov 13, 2023
FGFR21May 16, 2022
FGFR33Aug 25, 2022
FGFRL12Jan 5, 2021
FOXC21Nov 12, 2020
FOXF11May 16, 2022
FOXL21Nov 13, 2023
FOXP11Nov 12, 2020
FRAS13Nov 9, 2016
FREM25Nov 13, 2023
FZD51Nov 13, 2023
GALNT181May 16, 2022
GAN1Apr 11, 2023
GATA41Jan 27, 2022
GHR1Jan 27, 2022
GJA11Nov 13, 2023
GJB21May 16, 2022
GLB11Apr 11, 2023
GLI21Nov 13, 2023
GLI31Nov 9, 2016
GNAI11Jan 27, 2022
GNPTAB2Nov 13, 2023
GPC31Jan 27, 2022
GPC51Aug 14, 2023
GRIN2B1Nov 13, 2023
GRIP11May 16, 2022
HAX12Nov 13, 2023
HCCS1Nov 12, 2020
HEXA1Aug 25, 2022
HEXB2Nov 13, 2023
HOXD131Jan 27, 2022
HSPG22May 16, 2022
IDS1Nov 12, 2020
JAG11May 16, 2022
KANSL11Nov 13, 2023
KAT6A1Nov 13, 2023
KAT6B2Nov 13, 2023
KCNQ21Nov 13, 2023
KDM6A1May 16, 2022
KERA2Nov 13, 2023
KIF2A1Nov 13, 2023
KIF4A1May 16, 2022
KIF72May 16, 2022
KLHL401May 16, 2022
KMT2A1Nov 13, 2023
KMT2D13Nov 13, 2023
KNL12May 16, 2022
LARS12Aug 25, 2022
LIX1L-AS11Apr 11, 2023
LMX1B1Nov 12, 2020
LOC1053718561May 16, 2022
LOC1053760321Aug 23, 2021
LOC1060501021Nov 12, 2020
LOC1073033381Nov 13, 2023
LOC1138457881Nov 13, 2023
LOC1268058511Apr 11, 2023
LOC1268061711Aug 25, 2022
LOC1268072121Apr 11, 2023
LOC1268600751May 16, 2022
LOC1268604031May 16, 2022
LOC1268615201May 16, 2022
LOC1268622161May 16, 2022
LOC1299968571Aug 25, 2022
LOC1300659801Nov 13, 2023
LOC1300688861Dec 8, 2023
LPP1Jan 27, 2022
LRBA1Nov 13, 2023
LRP27May 16, 2022
LRP42Nov 13, 2023
LRP4-AS11Nov 13, 2023
LRRC37A21Nov 13, 2023
MAB21L21Nov 13, 2023
MACROD21Aug 14, 2023
MAGEL21Nov 13, 2023
MAP3K201Aug 25, 2022
MAP3K20-AS11Aug 25, 2022
MCPH11Nov 12, 2020
MCTP21Aug 14, 2023
MEA11Nov 13, 2023
MECP21Nov 13, 2023
MED1210Apr 26, 2024
MED13L1Aug 25, 2022
MICU11Aug 14, 2023
MID11May 16, 2022
MKKS1Apr 11, 2023
MMACHC1Nov 13, 2023
MNX11May 16, 2022
MPV171Nov 13, 2023
MSTO12May 16, 2022
MYBPC31May 16, 2022
MYCN1May 16, 2022
MYH71Apr 11, 2023
MYRF4Nov 12, 2020
NAA101Nov 13, 2023
NAA151Apr 11, 2023
NDUFAF41Aug 25, 2022
NEB2May 16, 2022
NEDD4L1May 16, 2022
NIPBL2May 16, 2022
NKX2-11Apr 11, 2023
NONO3Mar 17, 2020
NPHP41May 16, 2022
NRXN11Nov 13, 2023
NSF1Nov 13, 2023
OTX21Nov 13, 2023
PACS11Nov 13, 2023
PACS21May 16, 2022
PAX21Nov 13, 2023
PAX59Aug 23, 2021
PAX61Nov 13, 2023
PCLO2May 16, 2022
PDHA11Nov 12, 2020
PDZD21Nov 13, 2023
PHOX2B1May 16, 2022
PIEZO21May 16, 2022
PIGL2Jan 27, 2022
PIK3CA1May 16, 2022
PMS21Apr 11, 2023
POGZ1Nov 12, 2020
POLG1Nov 13, 2023
POLGARF1Nov 13, 2023
POLR3H1Apr 6, 2020
POR2May 16, 2022
PORCN2Nov 13, 2023
PPP2R5D1Nov 13, 2023
PQBP11May 16, 2022
PRKN1Apr 12, 2023
PRR122Nov 13, 2023
PSMA71Nov 13, 2023
PTEN1Apr 11, 2023
PTPN112Aug 25, 2022
PTPRQ2Nov 13, 2023
PUF601Nov 13, 2023
QARS12May 16, 2022
RAB3GAP12Nov 13, 2023
RAB3GAP21Nov 13, 2023
RAC11Nov 13, 2023
RAD511May 16, 2022
RANBP21Aug 25, 2022
RARB4Nov 13, 2023
RASA11Nov 12, 2020
RBM8A1Apr 11, 2023
RERE11Nov 13, 2023
RET1May 16, 2022
RIF11May 16, 2022
ROBO41Nov 9, 2016
RP1L11Nov 13, 2023
RYR12May 16, 2022
SACS2Jan 27, 2022
SALL12May 16, 2022
SALL42Apr 11, 2023
SCAMP41May 16, 2022
SCLT14Aug 25, 2022
SDHAF11May 16, 2022
SETD21May 16, 2022
SETD51Jan 27, 2022
SFTA31Apr 11, 2023
SKI1Nov 13, 2023
SLC12A31May 16, 2022
SLC12A51Nov 13, 2023
SLC12A5-AS11Nov 13, 2023
SLC20A21Aug 25, 2022
SLC2A101Nov 12, 2020
SLC44A41Nov 13, 2023
SMARCA44Nov 13, 2023
SMARCC21Nov 12, 2020
SMC1A3Nov 13, 2023
SOS11Nov 12, 2020
SPECC1L1May 16, 2022
SPECC1L-ADORA2A1May 16, 2022
SPEG2May 16, 2022
SPTB1Aug 25, 2022
STAG22Jan 27, 2022
STIL1May 16, 2022
TANC21May 16, 2022
TBL1XR11May 16, 2022
TBX31Jan 27, 2022
TBX3-AS11Jan 27, 2022
TBX51Aug 25, 2022
TCF121Nov 12, 2020
TCF42Aug 25, 2022
TCTN31Nov 13, 2023
TENM11Jan 27, 2022
TG1May 16, 2022
THOC21Nov 13, 2023
TLL11Apr 11, 2023
TMEM1381Nov 13, 2023
TMEM672Nov 13, 2023
TPO2May 16, 2022
TRAF71Nov 12, 2020
TTN2Nov 13, 2023
TTN-AS11May 16, 2022
TUBA1A1Nov 13, 2023
TUBGCP61Nov 13, 2023
UBA21Jan 27, 2022
UBE3B2May 16, 2022
USP9X2Jan 27, 2022
VRK21Aug 25, 2022
WT11Jan 27, 2022
ZBTB201May 16, 2022
ZDHHC242May 16, 2022
ZEB21May 16, 2022
ZFPM22Nov 12, 2020
ZFPM2-AS12Nov 12, 2020
ZNF7111May 16, 2022
ZSWIM61Nov 13, 2023

Condition

NameSubmissionsLast Updated
22q11.2 central deletion syndrome1Aug 14, 2023
8q24.3 microdeletion syndrome1Nov 13, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2May 16, 2022
ALG12-congenital disorder of glycosylation3Nov 12, 2020
APOB-related disorder1May 16, 2022
ATP7A-realted disorder1May 16, 2022
Achromatopsia 31Nov 13, 2023
Acrocallosal syndrome2May 16, 2022
Acromelic frontonasal dysostosis1Nov 13, 2023
Adrenoleukodystrophy1Nov 13, 2023
Al Kaissi syndrome1May 16, 2022
Alagille syndrome due to a JAG1 point mutation1May 16, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1May 16, 2022
Aminoaciduria2Oct 2, 2019
Aminoacylase 1 deficiency2Nov 13, 2023
Anomalous pulmonary venous return23Apr 12, 2023
Arterial tortuosity syndrome1Nov 12, 2020
Atrial septal defect 21Jan 27, 2022
Atrial septal defect 61Apr 11, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Nov 13, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2J1Nov 13, 2023
Autosomal recessive multiple pterygium syndrome1Jan 27, 2022
Autosomal recessive nonsyndromic hearing loss 1A1May 16, 2022
Autosomal recessive nonsyndromic hearing loss 84A2Nov 13, 2023
Autosomal recessive nonsyndromic hearing loss 931Nov 13, 2023
BAZ2B-related disorder8Jun 13, 2023
BRAT1-related disorder2Nov 13, 2023
Baraitser-Winter syndrome 11May 16, 2022
Bardet-Biedl syndrome 12May 16, 2022
Blepharocheilodontic syndrome 11May 16, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type1Nov 13, 2023
Blepharophimosis, ptosis, and epicanthus inversus syndrome1Nov 13, 2023
Bohring-Opitz syndrome1Nov 13, 2023
Brachydactyly-syndactyly syndrome1Jan 27, 2022
Brain small vessel disease 1 with or without ocular anomalies1Apr 11, 2023
C syndrome1Apr 11, 2023
CACNA1C-related disorder1May 16, 2022
CFH-related disorder1Nov 13, 2023
CHARGE association7Nov 13, 2023
CHIME syndrome2Jan 27, 2022
Capillary malformation-arteriovenous malformation 11Nov 12, 2020
Cardiac, facial, and digital anomalies with developmental delay1Nov 12, 2020
Cardiac-urogenital syndrome4Nov 12, 2020
Cenani-Lenz syndactyly syndrome2Nov 13, 2023
Charlevoix-Saguenay spastic ataxia2Jan 27, 2022
Cholestasis-pigmentary retinopathy-cleft palate syndrome1Apr 26, 2024
Chromosome 15q11.2 deletion syndrome3Aug 14, 2023
Chromosome 19p13.13 deletion syndrome1Aug 14, 2023
Cobalamin C disease1Nov 13, 2023
Coffin-Siris syndrome 81Nov 12, 2020
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Nov 13, 2023
Colobomatous microphthalmia-rhizomelic dysplasia syndrome1Nov 13, 2023
Complex cortical dysplasia with other brain malformations 31Nov 13, 2023
Congenital central hypoventilation1May 16, 2022
Congenital diaphragmatic hernia11Jan 5, 2021
Congenital heart defects and skeletal malformations syndrome1Nov 12, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jan 27, 2022
Congenital muscular hypertrophy-cerebral syndrome3Nov 13, 2023
Cornea plana 22Nov 13, 2023
Cornelia de Lange syndrome 12May 16, 2022
Cowden syndrome 11Apr 11, 2023
Currarino triad1May 16, 2022
DNAH11-related disorder1Apr 11, 2023
Deficiency of iodide peroxidase2May 16, 2022
Developmental and epileptic encephalopathy 961Nov 13, 2023
Developmental and epileptic encephalopathy, 271Nov 13, 2023
Developmental and epileptic encephalopathy, 341Nov 13, 2023
Developmental and epileptic encephalopathy, 501Aug 25, 2022
Developmental and epileptic encephalopathy, 661May 16, 2022
Developmental delay with short stature, dysmorphic facial features, and sparse hair 11Apr 19, 2024
Diaphragmatic eventration1Jan 27, 2022
Diaphragmatic hernia23Jan 27, 2022
Diaphragmatic hernia 32Nov 12, 2020
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2May 16, 2022
Dilated cardiomyopathy 1S1Apr 11, 2023
Distichiasis-lymphedema syndrome1Nov 12, 2020
Donnai-Barrow syndrome7May 16, 2022
Drash syndrome1Jan 27, 2022
Duane-radial ray syndrome1May 16, 2022
Dubin-Johnson syndrome2Aug 25, 2022
Dyskeratosis congenita, X-linked1Dec 8, 2023
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Aug 25, 2022
Ehlers-Danlos syndrome, spondylodysplastic type, 22Nov 12, 2020
Esophageal atresia1Aug 25, 2022
Exostoses, multiple, type 11Aug 25, 2022
FANCM-related disorder1Apr 11, 2023
FG syndrome 12Apr 26, 2024
FGFR1-related disorder1Nov 13, 2023
FGFR2-realated disorder1May 16, 2022
FGFR3-related disorder2May 16, 2022
FZD5-related disorder1Nov 13, 2023
Familial hypokalemia-hypomagnesemia1May 16, 2022
Fanconi anemia complementation group C1May 16, 2022
Fanconi anemia complementation group D13May 16, 2022
Fanconi anemia complementation group D21Nov 13, 2023
Fanconi anemia complementation group I1Nov 12, 2020
Fanconi anemia complementation group J1Nov 13, 2023
Fanconi anemia complementation group L1Aug 25, 2022
Fanconi anemia complementation group R1May 16, 2022
Feingold syndrome type 11May 16, 2022
Focal dermal hypoplasia2Nov 13, 2023
Fraser syndrome 11Nov 13, 2023
Fraser syndrome 31May 16, 2022
GLB1-related disorder1Apr 11, 2023
GNAI1-related disorder1Jan 27, 2022
GNPTAB-related disorder2Nov 13, 2023
Geleophysic dysplasia 12May 16, 2022
Giant axonal neuropathy 11Apr 11, 2023
Gordon syndrome1May 16, 2022
HSPG2-realted disorder2May 16, 2022
Hearing loss, autosomal dominant 721Nov 13, 2023
Hereditary spherocytosis type 21Aug 25, 2022
Hirschsprung disease, susceptibility to, 11May 16, 2022
Hogue-Janssens syndrome 11Nov 13, 2023
Holt-Oram syndrome1Aug 25, 2022
Hypertrophic cardiomyopathy 41May 16, 2022
Idiopathic basal ganglia calcification 11Aug 25, 2022
Infantile liver failure syndrome 12Aug 25, 2022
Intellectual developmental disorder with autism and macrocephaly1Jan 27, 2022
Intellectual developmental disorder with autistic features and language delay, with or without seizures1May 16, 2022
Intellectual disability, X-linked 1001May 16, 2022
Intellectual disability, X-linked 1022May 16, 2022
Intellectual disability, X-linked 971May 16, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted2Jan 27, 2022
Intellectual disability, autosomal dominant 144Aug 25, 2022
Intellectual disability, autosomal dominant 164Nov 13, 2023
Intellectual disability, autosomal dominant 401Jan 27, 2022
Intellectual disability, autosomal dominant 484Nov 13, 2023
Intellectual disability, autosomal dominant 501Apr 11, 2023
Intellectual disability, autosomal recessive 32Aug 25, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Jan 27, 2022
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome2Nov 13, 2023
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Nov 12, 2020
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Nov 12, 2020
Intellectual disability-strabismus syndrome1May 16, 2022
Iodotyrosyl coupling defect1May 16, 2022
Joubert syndrome 161Nov 13, 2023
Joubert syndrome 62Nov 13, 2023
KAT6B-realted disoder1May 16, 2022
KBG syndrome1Nov 12, 2020
KCNQ2-related disorder1Nov 13, 2023
Kabuki syndrome 113Nov 13, 2023
Kabuki syndrome 21May 16, 2022
Kleefstra syndrome 11May 16, 2022
Knobloch syndrome 11Nov 13, 2023
Koolen-de Vries syndrome1Nov 13, 2023
Kostmann syndrome2Nov 13, 2023
LEOPARD syndrome 11Aug 25, 2022
Left ventricular noncompaction 11Apr 11, 2023
Lethal multiple pterygium syndrome1Jan 27, 2022
Linear skin defects with multiple congenital anomalies 11Nov 12, 2020
Lissencephaly due to TUBA1A mutation1Nov 13, 2023
Luscan-Lumish syndrome1May 16, 2022
Lynch syndrome 41Apr 11, 2023
MED12-related disorder4Apr 26, 2024
Mandibulofacial dysostosis-microcephaly syndrome2Apr 11, 2023
McKusick-Kaufman syndrome1Apr 11, 2023
Microcephaly 1, primary, autosomal recessive1Nov 12, 2020
Microcephaly 4, primary, autosomal recessive2May 16, 2022
Microcephaly 7, primary, autosomal recessive1May 16, 2022
Microcephaly and chorioretinopathy 11Nov 13, 2023
Microphthalmia, syndromic 121Jan 27, 2022
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1Nov 13, 2023
Mitochondrial complex I deficiency, nuclear type 11Aug 25, 2022
Mitochondrial complex II deficiency, nuclear type 11May 16, 2022
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2May 16, 2022
Mowat-Wilson syndrome1May 16, 2022
Mucopolysaccharidosis, MPS-II1Nov 12, 2020
Mullegama-Klein-Martinez syndrome2Jan 27, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72Nov 13, 2023
Myopathy, centronuclear, 52May 16, 2022
NAA10-related disorder1Nov 13, 2023
NKX2-1-related disorder1Apr 11, 2023
Nail-patella syndrome1Nov 12, 2020
Nemaline myopathy 22May 16, 2022
Nemaline myopathy 81May 16, 2022
Neonatal severe primary hyperparathyroidism1Aug 25, 2022
Neurodevelopmental disorder15Aug 23, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart11Nov 13, 2023
Neuroocular syndrome2Nov 13, 2023
Nonspecific Intellectual Disability3Apr 26, 2024
Noonan syndrome 11May 16, 2022
Noonan syndrome 41Nov 12, 2020
OTX2-related disorder1Nov 13, 2023
Occult macular dystrophy1Nov 13, 2023
Oculocerebrofacial syndrome, Kaufman type2May 16, 2022
Oculodentodigital dysplasia1Nov 13, 2023
Oculofaciocardiodental syndrome2Nov 13, 2023
Okur-Chung neurodevelopmental syndrome1May 16, 2022
Optic atrophy 91Apr 6, 2020
Orofaciodigital syndrome type 142Nov 13, 2023
Osteopathia striata with cranial sclerosis1May 16, 2022
PAX6-related disorder1Nov 13, 2023
PDZD2-related disorder1Nov 13, 2023
PIK3CA-related disorder1May 16, 2022
POLG-related disorder1Nov 13, 2023
POR-related disorder2May 16, 2022
PSMA7-related disorder1Nov 13, 2023
Periventricular nodular heterotopia 71May 16, 2022
Pitt-Hopkins syndrome2Aug 25, 2022
Pitt-Hopkins-like syndrome 21Nov 13, 2023
Pontocerebellar hypoplasia type 32May 16, 2022
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome1Nov 13, 2023
Primary ciliary dyskinesia 171Apr 11, 2023
Primrose syndrome1May 16, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Nov 12, 2020
RYR1-related disorder2May 16, 2022
Radial aplasia-thrombocytopenia syndrome1Apr 11, 2023
Renal coloboma syndrome1Nov 13, 2023
Renpenning syndrome1May 16, 2022
Rett syndrome1Nov 13, 2023
Ritscher-Schinzel syndrome 21Nov 13, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations4Nov 13, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3May 16, 2022
SALL4-related disorder1Apr 11, 2023
SCLT1-related disorder2May 16, 2022
Sandhoff disease2Nov 13, 2023
Schaaf-Yang syndrome1Nov 13, 2023
Schuurs-Hoeijmakers syndrome1Nov 13, 2023
See cases16Aug 14, 2023
Senior-Loken syndrome 41May 16, 2022
Severe intellectual disability-progressive spastic diplegia syndrome1Nov 13, 2023
Shprintzen-Goldberg syndrome1Nov 13, 2023
Simpson-Golabi-Behmel syndrome type 11Jan 27, 2022
Sjögren-Larsson syndrome1May 16, 2022
Smith-Lemli-Opitz syndrome2Nov 13, 2023
Split-foot malformation-mesoaxial polydactyly syndrome1Aug 25, 2022
Syndactyly-telecanthus-anogenital and renal malformations syndrome1May 16, 2022
Syndromic X-linked intellectual disability 343Mar 17, 2020
TBL1XR1-related disorder1May 16, 2022
TCF12-related craniosynostosis1Nov 12, 2020
TCTN3-related disorder1Nov 13, 2023
TTN-related disorder1May 16, 2022
Tay-Sachs disease1Aug 25, 2022
Teebi hypertelorism syndrome 11May 16, 2022
Thanatophoric dysplasia type 11Aug 25, 2022
Townes-Brocks syndrome 12May 16, 2022
Tracheoesophageal fistula2Aug 25, 2022
Transposition of the great arteries, dextro-looped1Aug 25, 2022
UBA2-related disorder2Jan 27, 2022
Ulnar-mammary syndrome1Jan 27, 2022
Ventricular septal defect 11Jan 27, 2022
Warburg micro syndrome 12Nov 13, 2023
Warburg micro syndrome 21Nov 13, 2023
Wiedemann-Steiner syndrome1Nov 13, 2023
Williams syndrome1Apr 12, 2023
X-linked Opitz G/BBB syndrome1May 16, 2022
X-linked intellectual disability Cabezas type1Nov 13, 2023
X-linked intellectual disability-short stature-overweight syndrome1Nov 13, 2023
X-linked sideroblastic anemia 11Aug 25, 2022