developmental and epileptic encephalopathy 46

A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_m

A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.

Signs and symptoms

• Axial hypotonia
• Seizure
• Global developmental delay
• Limb hypertonia
• Epileptic encephalopathy
• Pes planus
• Dysphagia
• Hypsarrhythmia
• Microcephaly
• Absent speech

Also known as: DEE46; early infantile epileptic encephalopathy 46