Details of Disease

General Information of Disease (ID: DISF3NPW)

• Disease Name: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
• Synonyms: cerebellar ataxia, nonprogressive, with mental retardation; nonprogressive cerebellar ataxia with mental retardation; cerebellar ataxia, nonprogressive, with intellectual disability; non-progressive cerebellar ataxia with intellectual disability; CAMTA1-related disorder; cerebellar dysfunction with variable cognitive and behavioral abnormalities; CANPMR; nonprogressive cerebellar ataxia with intellectual disability
• Definition: Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
• Disease Hierarchy:
  DIS947AF: Autosomal dominant cerebellar ataxia type I
  DISF3NPW: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
• Disease Identifiers:
  MONDO ID: MONDO_0013886
  UMLS CUI: C3553661
  OMIM ID: 614756
  MedGen ID: 766575
  Orphanet ID: 314647

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
CAMTA1	OTAN1S5B	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.