congenital myasthenic syndrome 12

Findings

No curated finding names congenital myasthenic syndrome 12 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

Juvenile onset · Neonatal onset · Childhood 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

• congenital myasthenic syndrome with tubular aggregates
• disorder of glycosylation

Resolves to: congenital myasthenic syndrome 12

Also called

CMS12congenital myasthenic syndrome type 12congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1GFPT1 congenital myasthenic syndromes with glycosylation defectmyasthenia, congenital, 12, with tubular aggregatesmyasthenic syndrome, congenital, type 12