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Congenital myasthenic syndrome 14

MONDO:0014543

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.

Also known as: ALG2 congenital myasthenic syndromes with glycosylation defect, CMS14, CMSTA3, congenital myasthenic syndrome 14, congenital myasthenic syndrome type 14, congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2, myasthenic syndrome, congenital, 14, with tubular aggregates, myasthenic syndrome, congenital, type 14

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

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Neuromuscular disease (98) Inborn errors of metabolism (42) Syndromic disease (24) Human disease (14) Congenital disorder of glycosylation (6) Hereditary neurological disease (5)
Trials to join now! 14 Not yet recruiting 4 Not yet finished but already full! 3 Completed 6
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