Terminology Service for NFDI4Health

congenital myasthenic syndrome 18

Go to external page http://purl.obolibrary.org/obo/DOID_0110683


A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

congenital myasthenic syndrome 18

Synonyms
  • CMS18
database cross reference
has obo namespace

disease_ontology

id

DOID:0110683