developmental and epileptic encephalopathy 49

A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or com

A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Tented upper lip vermilion
• Coarse facial features
• Microcephaly
• EEG abnormality
• Thick eyebrow
• Everted lower lip vermilion
• Open mouth
• Severe global developmental delay
• Prominent nose

Also known as: DEE49; early infantile epileptic encephalopathy 49