developmental and epileptic encephalopathy 102

A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the

A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21.

Signs and symptoms

• Intellectual disability
• Axial hypotonia
• Absent speech
• Global developmental delay
• Inability to walk
• Visual impairment
• Microcephaly
• Chronic constipation
• Atypical behavior
• Epileptic encephalopathy

Also known as: DEE102; early infantile epileptic encephalopathy 102