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Congenital muscular dystrophy caused by variation in POMGNT2

MONDO:0700075

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

Also known as: congenital muscular dystrophy caused by mutation in POMGNT2, congenital muscular dystrophy-POMGNT2 related

65 clinical trials for this condition and its sub-types.

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Sub-types

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 (0) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (0)

Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Musculoskeletal system disorder (196) Hereditary disease (172) Neuromuscular disease (98) Muscular dystrophy (68) Muscle tissue disorder (53) Inborn errors of metabolism (42) Human disease (14)
Trials to join now! 33 Not yet recruiting 11 Not yet finished but already full! 7 Completed 13 Terminated 1
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