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Human Disease

congenital myasthenic syndrome 21

Term ID
DOID:0110672
Synonyms
  • CMS21
  • congenital myasthenic syndrome 21, presynaptic
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (2)
References
Ontology
Human Disease   ( DOID:0110672 )
Relationships
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Genes Involved
Zebrafish Models