OBO ID: DOID:0111611 |
Term Name: | autosomal recessive spinocerebellar ataxia 4 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
Definition: | An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. https://www.ncbi.nlm.nih.gov/pubmed/29604224 | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0111611 ) |
OTHER autosomal recessive spinocerebellar ataxia 4 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.