Autosomal dominant
Caused by loss-of-function changes in one copy of PRR12, a gene thought to regulate gene activity during brain and eye development. Many cases arise de novo, and some are inherited from a parent.
Signs and symptoms
Developmental delay or intellectual disability, often with behavioural or neuropsychiatric differences, is common. Many have eye anomalies such as small eyes (microphthalmia), coloboma or other structural eye differences. Heart defects and growth problems have each been reported in about half of people, and kidney anomalies in about a third.
What a diagnosis changes
Eye and vision care, developmental and educational support, and screening for heart and kidney anomalies. Many cases arise de novo, but some are inherited from a parent, so genetic counselling and parental testing guide recurrence risk.
Includes 2 related subtypes ↓Hide subtypes ↑
- benign paroxysmal tonic upgaze of childhood with ataxia
- neuroocular syndrome 1
