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Human Disease

spastic ataxia 8

Term ID
DOID:0080252
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. https://pubmed.ncbi.nlm.nih.gov/28575651/
References
Ontology
Human Disease   ( DOID:0080252 )
Relationships
is a type of
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Genes Involved
Zebrafish Models