multiple congenital anomalies-hypotonia-seizures syndrome 1 (DOID:0080138)
Alliance: disease page
Alt IDs: OMIM:614080
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.