ZFIN Human Disease: congenital myasthenic syndrome 6

OBO ID: DOID:0110671

Term Name:	congenital myasthenic syndrome 6		Search Ontology:
Synonyms:	CMS Ia2 CMS1A2 CMS6 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
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. (3)
References:	OMIM:254210
Ontology:	Human Disease ( DOID:0110671 )

Relationships

is a type of:	autosomal recessive disease congenital myasthenic syndrome autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

OTHER congenital myasthenic syndrome 6 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CHAT	chata chatb	Myasthenic syndrome, congenital, 6, presynaptic	254210

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None