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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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/12/2019
MGI 6.13
The Jackson Laboratory