Details of Disease

General Information of Disease (ID: DISZXLIC)

• Disease Name: Intellectual disability, autosomal dominant 34
• Synonyms: autosomal dominant non-syndromic intellectual disability 34; mental retardation, autosomal dominant 34; mental retardation, autosomal dominant type 34; intellectual disability, autosomal dominant type 34; autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP; COL4A3BP autosomal dominant non-syndromic intellectual disability; MRD34; intellectual disability, autosomal dominant 34; intellectual developmental disorder, autosomal dominant 34; autosomal dominant mental retardation 34; autosomal dominant intellectual disability 34
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.
• Disease Hierarchy:
  DISD6L06: Autosomal dominant non-syndromic intellectual disability
  DISZXLIC: Intellectual disability, autosomal dominant 34
• Disease Identifiers:
  MONDO ID: MONDO_0014599
  UMLS CUI: C4225156
  OMIM ID: 616351
  MedGen ID: 907277

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
CERT1	OTNUCNHX	Strong	Autosomal dominant	[1]

References

• [1] Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.