DISEASES

Disease-gene associations mined from literature

Human genes for spastic ataxia 8

Spastic ataxia 8 [DOID:0080252]

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.

Synonyms:  spastic ataxia 8,  DOID:0080252