Visualize Submit Comment
Metadata
ID DOID:0080252
Name spastic ataxia 8
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/
Xrefs

OMIM:617560

Parent Relationships

is_a spastic ataxia

is_a autosomal recessive disease

Add an item to the term tracker