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Human Disease

congenital myasthenic syndrome 20

Term ID
DOID:0110661
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models