Details of Disease

General Information of Disease (ID: DIS5NJ86)

• Disease Name: Intellectual disability, autosomal recessive 61
• Synonyms: mental retardation, autosomal recessive 61; MRT61; Alwadei syndrome; autosomal recessive intellectual disability 61; autosomal recessive mental retardation 61; intellectual disability, autosomal recessive 61
• Definition: An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS5NJ86: Intellectual disability, autosomal recessive 61
• Disease Identifiers:
  MONDO ID: MONDO_0030915
  UMLS CUI: C4540424
  OMIM ID: 617773
  MedGen ID: 1622296

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
RUSC2	OT0EKMVR	Strong	Autosomal recessive	[1]

References

• [1] Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly. Dev Med Child Neurol. 2016 Dec;58(12):1317-1322. doi: 10.1111/dmcn.13250. Epub 2016 Sep 9.