Autosomal dominant
Caused by changes in one copy of PIP5K1C, an enzyme that makes the lipid signalling molecule PI(4,5)P2, which helps control endosome trafficking. Reported changes have usually arisen de novo.
Signs and symptoms
Developmental delay and intellectual disability are the main features. Some people have seizures, a small head size or eye problems. Features vary and are still being defined as more people are reported.
What a diagnosis changes
Developmental and educational support, with neurological and eye review as needed. Most cases arise de novo, but genetic counselling and parental testing guide recurrence risk.
Genes analysed
MONDO:1010145Sources: [1]
