ZFIN Human Disease: congenital myasthenic syndrome 20

OBO ID: DOID:0110661

Term Name:	congenital myasthenic syndrome 20		Search Ontology:
Synonyms:	CMS20 congenital myasthenic syndrome 20 presynaptic
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. https://www.ncbi.nlm.nih.gov/pubmed/27569547
References:	OMIM:617143
Ontology:	Human Disease ( DOID:0110661 )

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 20 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC5A7	slc5a7a slc5a7b	Myasthenic syndrome, congenital, 20, presynaptic	617143

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None