multiple congenital anomalies-hypotonia-seizures syndrome 2

A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary sy

A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.

Signs and symptoms

• Encephalopathy
• Exaggerated startle response
• Stomatocytosis
• Focal clonic seizure
• Short stature
• Short palpebral fissure
• Starry sky appearance on hepatic sonography
• Deep palmar crease
• Long palpebral fissure
• Diffuse leukoencephalopathy

Also known as: developmental and epileptic encephalopathy 20; early infantile epileptic encephalopathy 20; glycosylphosphatidylinositol biosynthesis defect 4