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Metadata
ID	DOID:0080587
Name	congenital myasthenic syndrome 22
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
Xrefs	OMIM:616224
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease