congenital myopathy 2b, severe infantile, autosomal recessive

Findings

No curated finding names congenital myopathy 2b, severe infantile, autosomal recessive 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

Death in infancy · Congenital onset · Neonatal death · Death in childhood

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.

Where it sits

A kind of

• autosomal recessive disease
• congenital myopathy
• hereditary neuromuscular disease
• hereditary skeletal muscle disorder
• rigid spine syndrome