developmental and epileptic encephalopathy 111

A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in

A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Inguinal hernia
• Hypoplastic left ventricle
• Sepsis
• Pulmonary artery stenosis
• Thick eyebrow
• Biventricular hypertrophy
• Severe global developmental delay
• Sinus tachycardia
• Premature ventricular contraction