Human genes for multiple congenital anomalies-hypotonia-seizures syndrome 3
Multiple congenital anomalies-hypotonia-seizures syndrome 3 [DOID:0080140]
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 that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.
Synonyms: multiple congenital anomalies-hypotonia-seizures syndrome 3, DOID:0080140, multiple congenital anomalieshypotoniaseizures syndrome 3