congenital myasthenic syndrome 6 (DOID:0110671)
Alliance: disease page
Synonyms: CMS1A2; CMS6; CMS Ia2; CMSEA; congenital myasthenic syndrome 6, presynaptic; congenital myasthenic syndrome type Ia2; congenital presynaptic myasthenic syndrome associated with episodic apnea; familial infantile myasthenia; familial infantile myasthenia gravis 2; FIM; FIMG2
Alt IDs: OMIM:254210
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.