Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 20
DOID:0110661
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 20

Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12.
Synonyms
  • CMS20
  • congenital myasthenic syndrome 20 presynaptic
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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