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spastic ataxia 4

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.
Uniprot Description A slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013354:  spastic ataxia 4
GARD:0010992: 
Orphanet:254343: 
UMLS:C3150925: 
UMLS:CN230090: