| Metadata | |
|---|---|
| ID | DOID:0060965 |
| Name | episodic ataxia type 9 |
| Definition | An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. https://pubmed.ncbi.nlm.nih.gov/30928199/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a episodic ataxia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |