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Summary Literature (0)
DOID:0110657 - congenital myasthenic syndrome 8

Disease Ontology 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.

Synonyms: CMS8, congenital myasthenic syndrome 8 with pre- and postsynaptic defects, congenital myasthenic syndrome due to agrin deficiency

Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : agrn

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): congenital myasthenic syndrome (is_a)

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Version: 4.15.0
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