multiple congenital anomalies-hypotonia-seizures syndrome 1

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 has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.

Signs and symptoms

• Choreoathetosis
• Macrocephaly
• Hyperreflexia
• Anal stenosis
• Epicanthus
• Anal atresia
• Large fleshy ears
• Seizure
• Hypotonia
• Short nose