OBO ID: DOID:0080252
Term Name: spastic ataxia 8 Search Ontology:
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:
OTHER spastic ataxia 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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