Visualize Submit Comment

Metadata
ID	DOID:0110659
Name	congenital myasthenic syndrome 7
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. https://www.ncbi.nlm.nih.gov/pubmed/25192047, https://www.ncbi.nlm.nih.gov/pubmed/25792100
Xrefs	MIM:616040
Synonyms	CMS7 [EXACT] congenital myasthenic syndrome 7 presynaptic [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal dominant disease