White-Sutton Syndrome (WHSUS)

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OMIM 57 616364 Disease Ontology 12 DOID:0070067 Orphanet 59 ORPHA468678

MedGen 42 C4225351 CN230318 MeSH 44 D008607 SNOMED-CT via HPO 69 263681008 262016004 27272007 13649004 271611007 109504005 22810007 275259005 253251006 95515009 249327002 95427009 82649003 128602000 22066006 28835009 274524001 38101003 57190000 76976005 102968003 25786006 277843001 43476002 228156007 247578003 91138005 224958001 27911000 298203008 14760008 225595004 16331000 235595009 698065002 278849000 418143002 52522001 204043002 237836003 194424005 78164000 413924001 68574006 248062006 more

Genetics Home Reference : ²⁵ 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). Affiliated tissues include heart, and related phenotypes are low-set ears and short neck

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 : ⁵⁷ 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 : ⁷⁵ 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.

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.