Term Name: | spastic ataxia 8 |
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Synonyms: | |
Definition: | A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. |
Ontology: | Human Disease [DOID:0080252] ( DOID:0080252 ) |