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Metadata
ID DOID:0050943
Name spastic ataxia 4
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, https://www.omim.org/entry/613672
Xrefs

OMIM:613672

Parent Relationships

is_a spastic ataxia

is_a autosomal recessive disease

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