OBO ID: DOID:0110672
Term Name: congenital myasthenic syndrome 21 Search Ontology:
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)
OTHER congenital myasthenic syndrome 21 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC18A3 Myasthenic syndrome, congenital, 21, presynaptic 617239
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None