Details of Disease

General Information of Disease (ID: DIS0YN4J)

• Disease Name: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
• Synonyms: IDMDC
• Definition: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS0YN4J: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0017232
  UMLS CUI: C4749580
  MedGen ID: 1659846
  Orphanet ID: 280384
  SNOMED CT ID: 770901001

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
ERLIN2	OT551BVG	Supportive	Autosomal recessive	[1]

References

• [1] A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. Hum Mol Genet. 2011 May 15;20(10):1886-92. doi: 10.1093/hmg/ddr070. Epub 2011 Feb 17.