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Summary Literature (0)
MIM:610542 - MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12

Xenbase Genes: gfpt1

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012518 - congenital myasthenic syndrome 12
MONDO:0018144 - congenital myasthenic syndromes with glycosylation defect
MONDO:0018940 - congenital myasthenic syndrome

Disease Ontology (DO):
DOID:0110660 - congenital myasthenic syndrome 12