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

• OMIM:617560

Ontology

Human Disease   ( DOID:0080252 )