Term Name:	congenital myasthenic syndrome 14
Synonyms:	CMS14, CMSTA3, congenital myasthenic syndrome 14, with tubular aggregates, congenital myasthenic syndrome with tubular aggregates 3
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
Ontology:	Human Disease [DOID:0110669]   ( DOID:0110669 )