Term Name: spastic ataxia 8
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 )

Relationships
is a type of: autosomal recessive disease spastic ataxia