OBO ID: DOID:0111611
Term Name: autosomal recessive spinocerebellar ataxia 4 Search Ontology:
Synonyms:
  • autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
  • SCA24
  • SCAR4
  • SCASI
  • spinocerebellar ataxia 24
  • spinocerebellar ataxia with saccadic intrusions
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
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VPS13D Spinocerebellar ataxia, autosomal recessive 4 607317
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None