Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 18
DOID:0110683
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 18

Definition
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.
Synonyms
  • CMS18
Cross References
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