ZFIN Human Disease: congenital myasthenic syndrome 21

OBO ID: DOID:0110672

Term Name:	congenital myasthenic syndrome 21		Search Ontology:
Synonyms:	CMS21 congenital myasthenic syndrome 21, presynaptic
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (2)
References:	OMIM:617239
Ontology:	Human Disease ( DOID:0110672 )

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 21 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC18A3	slc18a3b slc18a3a	Myasthenic syndrome, congenital, 21, presynaptic	617239

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None