Term Name: | congenital myasthenic syndrome 21 |
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Synonyms: | CMS21, congenital myasthenic syndrome 21, presynaptic |
Definition: | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. |
Ontology: | Human Disease [DOID:0110672] ( DOID:0110672 ) |