developmental and epileptic encephalopathy 122

A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosom

A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21.

Signs and symptoms

• Encephalopathy
• Nystagmus
• Postnatal growth retardation
• Hyperactivity
• Interictal EEG abnormality
• Absent speech
• Small basal ganglia
• Atypical absence seizure
• Low-set ears
• Myoclonus