OBO ID: DOID:0050943
Term Name: spastic ataxia 4 Search Ontology:
Synonyms:
Definition: A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (2)
References:
Ontology: Human Disease   (DOID:0050943)
OTHER spastic ataxia 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTPAP ?Spastic ataxia 4, autosomal recessive 613672
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None