Rare Disease Library

Sodium-dependent multivitamin transporter deficiency

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Spirillary rat-bite fever

Sodoku

Axial mesodermal dysplasia spectrum

Blastogenesis defect · Russell-Weaver-Bull 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

Hereditary sodium channelopathy-related small fibers neuropathy

Neurological muscular channelopathy due to a genetic sodium channel defect

OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect

OBSOLETE: Channelopathy due to an epithelial sodium channel defect

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

DYT9 · Episodic choreoathetosis/spasticity

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Stoll-Kieny-Dott syndrome