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Disease Ontology Browser
congenital myasthenic syndrome 8 (DOID:0110657)
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Synonyms: CMS8; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; congenital myasthenic syndrome due to agrin deficiency
Alt IDs: OMIM:615120
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p.

Disease References using Mouse Models (1)
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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03/18/2025
MGI 6.24 		The Jackson Laboratory