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congenital myasthenic syndrome 7

Go to external page http://purl.obolibrary.org/obo/DOID_0110659


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

congenital myasthenic syndrome 7

Synonyms
  • CMS7
  • congenital myasthenic syndrome 7 presynaptic
database cross reference
has obo namespace

disease_ontology

id

DOID:0110659