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Metadata
ID DOID:0050942
Name spastic ataxia 3
Definition A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.
https://www.ncbi.nlm.nih.gov/pubmed/22448145, https://www.omim.org/entry/611390
Xrefs

OMIM:611390

Parent Relationships

is_a spastic ataxia

is_a autosomal recessive disease

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