|OBO ID: DOID:0110661|
|Term Name:||congenital myasthenic syndrome 20||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0110661)|
|is a type of:||
OTHER congenital myasthenic syndrome 20 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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