Term Name: | congenital myasthenic syndrome 22 |
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Synonyms: | |
Definition: | A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. |
Ontology: | Human Disease [DOID:0080587] ( DOID:0080587 ) |