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

• MIM:617143

Ontology

Human Disease   ( DOID:0110661 )