congenital myasthenic syndrome 14 (DOID:0110669)
Alliance: disease page
Synonyms: CMS14; CMSTA3; congenital myasthenic syndrome 14, with tubular aggregates; congenital myasthenic syndrome with tubular aggregates 3
Alt IDs: OMIM:616228
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.