Details of Disease

General Information of Disease (ID: DISLZ9M1)

• Disease Name: Autosomal recessive spinocerebellar ataxia 20
• Synonyms: intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; spinocerebellar ataxia, autosomal recessive 20; SCAR20; autosomal recessive spinocerebellar ataxia type 20; autosomal recessive cerebellar ataxia caused by mutation in SNX14; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; SNX14 autosomal recessive cerebellar ataxia; spinocerebellar ataxia, autosomal recessive type 20
• Definition: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISWBOUC: Autosomal recessive cerebellar ataxia
  DISOV08L: Central nervous system malformation
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISLZ9M1: Autosomal recessive spinocerebellar ataxia 20
• Disease Identifiers:
  MONDO ID: MONDO_0014601
  UMLS CUI: C5190595
  OMIM ID: 616354
  MedGen ID: 1684324
  Orphanet ID: 397709
  SNOMED CT ID: 782753000

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
SNX14	OTXI9C1E	Strong	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.