Human genes for congenital myasthenic syndrome 22
Congenital myasthenic syndrome 22 [DOID:0080587]
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.
Synonyms: congenital myasthenic syndrome 22, DOID:0080587