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Metadata
ID	DOID:0110672
Name	congenital myasthenic syndrome 21
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. https://www.ncbi.nlm.nih.gov/pubmed/20123977, https://www.ncbi.nlm.nih.gov/pubmed/27590285
Xrefs	MIM:617239
Synonyms	CMS21 [EXACT] congenital myasthenic syndrome 21, presynaptic [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease