Details of Disease

General Information of Disease (ID: DISLV8JT)

• Disease Name: Intellectual disability, autosomal recessive 56
• Synonyms: intellectual disability, autosomal recessive 56; ZC3H14 autosomal recessive non-syndromic intellectual disability; MRT56; autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14; intellectual disability, autosomal recessive type 56; mental retardation, autosomal recessive 56; intellectual developmental disorder, autosomal recessive 56; mental retardation, autosomal recessive type 56
• Definition: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene.
• Disease Hierarchy:
  DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
  DISLV8JT: Intellectual disability, autosomal recessive 56
• Disease Identifiers:
  MONDO ID: MONDO_0014930
  UMLS CUI: C4310703
  OMIM ID: 617125
  MedGen ID: 934670

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
ZC3H14	OTX6U72I	Limited	Autosomal dominant	[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.