Term Name:	multiple congenital anomalies-hypotonia-seizures syndrome 1
Synonyms:
Definition:	A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
Ontology:	Human Disease [DOID:0080138]   ( DOID:0080138 )