ZFIN Human Disease: congenital myasthenic syndrome 7

OBO ID: DOID:0110659

Term Name:	congenital myasthenic syndrome 7		Search Ontology:
Synonyms:	CMS7 congenital myasthenic syndrome 7 presynaptic
Definition:	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (2)
References:	OMIM:616040
Ontology:	Human Disease ( DOID:0110659 )

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 7 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SYT2	syt2b syt2a	Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant	616040

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None