Term Name: congenital myasthenic syndrome 22
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 )

Relationships
is a type of: autosomal recessive disease congenital myasthenic syndrome