|OBO ID: DOID:0080587|
|Term Name:||congenital myasthenic syndrome 22||Search Ontology:|
|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. https://www.ncbi.nlm.nih.gov/pubmed/28726805|
|Ontology:||Human Disease (DOID:0080587)|
|is a type of:||
OTHER congenital myasthenic syndrome 22 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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