Parents

Disease burden and prevalence
The AP3B2-associated neurological disorder is rare and its disease burden and prevalence is unknown.

Inheritance
Early-onset encephalopathy 48 is an autosomal recessive disorder. The child develops the syndrome if he or she inherits a gene copy from the mutated gene from each parent, who usually do not have the genetic disorder.

Clinical characteristics
Individuals with AP3-associated neurological disorder show a broad spectrum of neurological symptoms comprising epileptic encephalopathy, seizures and developmental delay.

Management
There is no causal treatment. General treatment of individuals relates to alleviating symptoms and improving quality of life.