multiple congenital anomalies-hypotonia-seizures syndrome 3

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 syst

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.

Signs and symptoms

• Strabismus
• Hypotonia
• Nystagmus
• Intellectual disability
• Delayed skeletal maturation
• Hypermetropia
• Cerebral visual impairment
• Multifocal epileptiform discharges
• Hydroureter
• Nephrocalcinosis

Also known as: M syndrome; light fixation seizure syndrome