Metadata | |
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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 | |
Parent Relationships |
is_a spastic ataxia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |