Details of Disease

General Information of Disease (ID: DISETUSS)

• Disease Name: Intellectual disability, autosomal dominant 39
• Synonyms: autosomal dominant non-syndromic intellectual disability 39; chromosome 2P25.3 deletion syndrome; chromosome 2P25.3 Duplication syndrome; mental retardation, autosomal dominant 39; intellectual disability, autosomal dominant type 39; autosomal dominant intellectual disability 39; mental retardation, autosomal dominant type 39; MRD39; intellectual disability, autosomal dominant 39; autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L; MYT1L autosomal dominant non-syndromic intellectual disability; autosomal dominant mental retardation 39; intellectual developmental disorder, autosomal dominant 39
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISETUSS: Intellectual disability, autosomal dominant 39
• Disease Identifiers:
  MONDO ID: MONDO_0014678
  UMLS CUI: C4225296
  OMIM ID: 616521
  MedGen ID: 909304

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
MYT1L	OTV45MAS	Strong	Autosomal dominant	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.