episodic ataxia type 6
Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.
MONDO:0016227
hereditary episodic ataxia
is_a
MONDO:0019216
inborn disorder of amino acid transport
is_a
EA6
related
SLC1A3 hereditary episodic ataxia
exact
episodic ataxia type 6
exact
episodic ataxia, type 6
related
hereditary episodic ataxia caused by mutation in SLC1A3
exact