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Disease Ontology Browser
congenital myasthenic syndrome 4C (DOID:0110679)
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Synonyms: CMS1D; CMS4C; CMS Id; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type Id; familial infantile myasthenia 1; FIM1
Alt IDs: OMIM:608931
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory