congenital myasthenic syndrome 22 (DOID:0080587)
Alliance: disease page
Alt IDs: OMIM:616224
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.