Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation

Congenital myasthenic syndrome with glycosylation defect due to ALG14 UDP-N-acetylglucosaminyltransferase subunit gene mutation (disorder)

active

Code	`1366554003`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20250601

Synonyms

Congenital myasthenic syndrome with ALG14-CDG (congenital disorder of glycosylation)
Congenital myasthenic syndrome with glycosylation defect due to ALG14 gene mutation

Parents (7)

85995004Autosomal recessive hereditary disorder disorder
277893002Carbohydrate-deficient glycoprotein syndrome type I disorder
230672006Congenital myasthenic syndrome disorder
128190004Inherited metabolic disorder of nervous system disorder
1153623003Metabolic neuropathy disorder
193209005Myasthenic syndrome due to another disorder disorder
60738003Secondary myopathy disorder

Children (0)

None (leaf concept).