congenital myasthenic syndrome 11

Findings

No curated finding names congenital myasthenic syndrome 11 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

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

• postsynaptic congenital myasthenic syndrome

Resolves to: congenital myasthenic syndrome 11

Also called

CMS11congenital myasthenic syndrome caused by mutation in RAPSNcongenital myasthenic syndrome type 11RAPSN congenital myasthenic syndrome