PIGB

Parents

Developmental and epileptic encephalopathy 80 (DEE80) generally affect the development and function of the brain. It is transmitted in an autosomal recessive manner which means that both copies of the gene must carry the mutations for the disease to occur. The presentation of developmental and epileptic encephalopathy 80 often overlaps with DOORS syndrome: deafness, onychodystrophy (nail anomalies), osteodystrophy (bone anomalies), mental retardation and seizures.