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Start free with EleplanOphthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
ORPHA:698090Malformation syndrome
Also called BRPF1-related neurodevelopmental disorder
What it is
A rare genetic syndrome characterized by developmental delay, intellectual disability, ophthalmological abnormalities and dysmorphic facial features such as ptosis and round face.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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