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A reference for what the literature reports. Not medical advice.

Disease

congenital muscular dystrophy caused by variation in POMGNT2

MONDO:0700075Mondo

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Findings

No curated finding names congenital muscular dystrophy caused by variation in POMGNT2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.

Definition from the Mondo Disease Ontology (MONDO:0700075), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: congenital muscular dystrophy
hereditary neuromuscular disease
myopathy caused by variation in POMGNT2
Narrower terms (2): muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8

Other names

2 names

Resolves to: congenital muscular dystrophy caused by variation in POMGNT2

Also called: congenital muscular dystrophy caused by mutation in POMGNT2congenital muscular dystrophy-POMGNT2 related