Term Name: | episodic ataxia type 9 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060965] ( DOID:0060965 ) |