congenital myasthenic syndrome 20

Findings

No curated finding names congenital myasthenic syndrome 20 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Congenital onset · Infantile onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• presynaptic congenital myasthenic syndrome

Resolves to: congenital myasthenic syndrome 20

Also called

CMS20congenital myasthenic syndrome caused by mutation in SLC5A7congenital myasthenic syndrome type 20myasthenic syndrome, congenital, 20, presynapticSLC5A7 congenital myasthenic syndrome