Metadata | |
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ID | DOID:0050990 |
Name | episodic ataxia type 2 |
Definition | An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. https://www.omim.org/entry/108500 |
Xrefs | |
Parent Relationships |
is_a episodic ataxia |