Term Name: congenital myasthenic syndrome 15
Synonyms: CMS15, congenital myasthenic syndrome 15 without tubular aggregates
Definition: A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21.
Ontology: Human Disease [DOID:0110658]   ( DOID:0110658 )

Relationships
is a type of: autosomal recessive disease congenital myasthenic syndrome