White-Sutton Syndrome (WHSUS)

External Ids:

Disease Ontology 12 DOID:0070067 OMIM 58 616364 MeSH 45 D008607 Orphanet 60 ORPHA468678

MedGen 43 C4225351 CN230318 SNOMED-CT via HPO 70 102968003 109504005 128602000 13649004 14760008 16331000 194424005 204043002 22066006 224958001 225595004 22810007 228156007 235595009 237836003 247578003 248062006 249327002 253251006 25786006 262016004 263681008 271611007 27272007 274524001 275259005 277843001 278849000 27911000 28835009 298203008 38101003 413924001 418143002 43476002 52522001 57190000 68574006 698065002 76976005 78164000 82649003 91138005 95427009 95515009 more EFO 17 EFO_0009079

Genetics Home Reference : ²⁶ White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor.

MalaCards based summary : White-Sutton Syndrome, also known as whsus, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia and glycine encephalopathy. An important gene associated with White-Sutton Syndrome is POGZ (Pogo Transposable Element Derived With ZNF Domain). Related phenotypes are abnormality of cardiovascular system morphology and low-set ears

Disease Ontology : ¹² An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of POGZ on chromosome 1q21.3.

OMIM : ⁵⁸ White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding (summary by White et al., 2016). A significant number of patients have autism or autistic features (summary by Stessman et al., 2016). (616364)

UniProtKB/Swiss-Prot : ⁷⁶ White-Sutton syndrome: A mental retardation syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss.

Wikipedia : ⁷⁷ White Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of... more...

Clinical features from OMIM:

616364

Search Clinical Trials , NIH Clinical Center for White-Sutton Syndrome

Search GEO for disease gene expression data for White-Sutton Syndrome.