OBO ID: DOID:0110661
Term Name: congenital myasthenic syndrome 20 Search Ontology:
Synonyms:
  • CMS20
  • congenital myasthenic syndrome 20 presynaptic
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. https://www.ncbi.nlm.nih.gov/pubmed/27569547
References:
Ontology: Human Disease   (DOID:0110661)
OTHER congenital myasthenic syndrome 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC5A7 Myasthenic syndrome, congenital, 20, presynaptic 617143
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None