Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 14
DOID:0110669
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 14

Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22.
Synonyms
  • CMS14
  • CMSTA3
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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