Rare Disease Library

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

Episodic ataxia type 1

Episodic ataxia with myokymia

Episodic ataxia type 3

Episodic ataxia-vertigo-tinnitus-myokymia syndrome

Episodic ataxia type 4

PATX · Periodic vestibulocerebellar ataxia

Episodic ataxia type 5

Episodic ataxia type 6

Episodic ataxia type 7

Episodic ataxia with slurred speech

Episodic ataxia type 8

Episodic memory defect leukoencephalopathy

White matter hyperintensities-episodic memory defect leukoencephalopathy · Hippocampal memory defect leukoencephalopathy

Familial episodic pain syndrome

FEPS

Familial episodic pain syndrome with predominantly lower limb involvement

Familial episodic pain syndrome with predominantly upper body involvement

Hereditary episodic ataxia

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Stoll-Kieny-Dott syndrome