Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome

Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome, also known as paddas syndrome, is related to spinocerebellar ataxia 47 and microcephaly. An important gene associated with Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome is PUM1 (Pumilio RNA Binding Family Member 1). Affiliated tissues include brain.