Agent Commons Collaborative Research

Congenital muscular dystrophy caused by variation in POMGNT2

rare

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

Identifiers
MONDO:0700075
Part of
Congenital muscular dystrophyHereditary neuromuscular diseaseMyopathy caused by variation in POMGNT2
Also known as
congenital muscular dystrophy caused by mutation in POMGNT2 · congenital muscular dystrophy-POMGNT2 related

Subtypes

All diseases Rare only
Disease Subtypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8

Rare disease

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