ZFIN Human Disease: congenital myasthenic syndrome 18

OBO ID: DOID:0110683

Term Name:	congenital myasthenic syndrome 18		Search Ontology:
Synonyms:	CMS18
Definition:	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. https://www.ncbi.nlm.nih.gov/pubmed/25381298
References:	OMIM:616330
Ontology:	Human Disease ( DOID:0110683 )

Relationships

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

OTHER congenital myasthenic syndrome 18 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SNAP25	snap25a snap25b	?Myasthenic syndrome, congenital, 18	616330

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None