Human genes for multiple congenital anomalies-hypotonia-seizures syndrome 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 [DOID:0080138]
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.
Synonyms: multiple congenital anomalies-hypotonia-seizures syndrome 1, DOID:0080138, multiple congenital anomalieshypotoniaseizures syndrome 1