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:
Ontology: Human Disease   (DOID:0110659)
OTHER congenital myasthenic syndrome 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SYT2 Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant 616040
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None