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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

OMIM:616040

Synonyms

CMS7 [EXACT]

congenital myasthenic syndrome 7 presynaptic [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal dominant disease

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