Details of Disease

General Information of Disease (ID: DISLB21H)

• Disease Name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
• Synonyms: mental retardation, autosomal dominant 18; GATAD2B-associated neurodevelopmental disorder; intellectual disability, autosomal dominant 18; autosomal dominant non-syndromic intellectual disability 18; autosomal dominant intellectual disability 18; GAND syndrome; intellectual disability, autosomal dominant type 18; MRD18; mental retardation, autosomal dominant type 18; autosomal dominant mental retardation 18; severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
• Definition: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DIS1I87P: Intellectual disability, autosomal dominant
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISLB21H: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014034
  UMLS CUI: C3554448
  OMIM ID: 615074
  MedGen ID: 767362
  Orphanet ID: 363686

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
GATAD2B	OTJL128N	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.