Details of Disease

General Information of Disease (ID: DISZ0GS1)

• Disease Name: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
• Synonyms: WHITE-Sutton syndrome; intellectual disability, autosomal dominant 37; White-Sutton syndrome; mental retardation, autosomal dominant 37; mental retardation, autosomal dominant type 37; WHSUS; autosomal dominant mental retardation 37; autosomal dominant intellectual disability 37; MRD37; intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome; intellectual disability, autosomal dominant type 37
• Definition: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS1I87P: Intellectual disability, autosomal dominant
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISZ0GS1: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014606
  UMLS CUI: C4225351
  OMIM ID: 616364
  MedGen ID: 897984
  Orphanet ID: 468678
  SNOMED CT ID: 772127009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POGZ	OT4CYWC1	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.