congenital myasthenic syndrome 6

Summary

DOID:0110671 - congenital myasthenic syndrome 6

Disease Ontology 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.

Synonyms: CMS Ia2, CMS1A2, CMS6, CMSEA, congenital myasthenic syndrome 6, presynaptic, congenital myasthenic syndrome type Ia2, familial infantile myasthenia, familial infantile myasthenia gravis 2, FIM, FIMG2, congenital presynaptic myasthenic syndrome associated with episodic apnea

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: chat

MIM:

MIM:254210 - myasthenic syndrome, congenital, associated with episodic apnea

MIM:254210 - myasthenic syndrome, congenital, associated with episodic apnea

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myasthenic syndrome (is_a)