multiple congenital anomalies-hypotonia-seizures syndrome 3 (DOID:0080140)
Alliance: disease page
Alt IDs: OMIM:615398
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 that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.