developmental and epileptic encephalopathy 73

A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygou

A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1.

Signs and symptoms

• Hypertonia
• Flexion contracture
• Seizure
• Profound intellectual disability
• Failure to thrive
• Cerebral visual impairment
• Restlessness
• Scoliosis
• Hypoplasia of the corpus callosum
• Sensorineural hearing impairment

Also known as: DEE73; early infantile epileptic encephalopathy 73