Details of Disease

General Information of Disease (ID: DIS1TMDP)

• Disease Name: Intellectual disability, autosomal recessive 52
• Synonyms: autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L; mental retardation, autosomal recessive 52; intellectual disability, autosomal recessive type 52; MRT52; intellectual developmental disorder, autosomal recessive 52; LMAN2L autosomal recessive non-syndromic intellectual disability; intellectual disability, autosomal recessive 52; mental retardation, autosomal recessive type 52
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DIS1TMDP: Intellectual disability, autosomal recessive 52
• Disease Identifiers:
  MONDO ID: MONDO_0014815
  UMLS CUI: C4225168
  OMIM ID: 616887
  MedGen ID: 903181

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
LMAN2L	OTJ9FAWS	Limited	Autosomal recessive	[1]

References

• [1] Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13.