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Disease Ontology Browser
congenital myasthenic syndrome 20 (DOID:0110661)
Alliance: disease page
Synonyms: CMS20; congenital myasthenic syndrome 20 presynaptic
Alt IDs: OMIM:617143
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory