Search Ontology:
Human Disease

spastic ataxia 4

Term ID
DOID:0050943
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. https://www.ncbi.nlm.nih.gov/pubmed/20970105
References
Ontology
Human Disease   ( DOID:0050943 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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