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Biallelic loss-of-function mutations in the gene DENND5A result in a neurodevelopmental disorder characterized by global developmental delay, seizures, brain malformations, hypotonia, and microcephaly.

Prevalence: The prevalence of DENND5A-linked developmental disease is not known.

Inheritance: Autosomal recessive

Age of onset: Neonatal or Infancy for more severe cases, childhood for milder cases.