Details of Disease

General Information of Disease (ID: DIS2CLTL)

• Disease Name: Intellectual disability, autosomal recessive 45
• Synonyms: mental retardation, autosomal recessive 45; MRT45; intellectual disability, autosomal recessive 45; FBXO31 autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive type 45; mental retardation, autosomal recessive type 45; autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS2CLTL: Intellectual disability, autosomal recessive 45
• Disease Identifiers:
  MONDO ID: MONDO_0014430
  UMLS CUI: C4014864
  OMIM ID: 615979
  MedGen ID: 863301

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
FBXO31	OTF96IC2	Limited	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.