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Start free with EleplanRNU4-2-related autosomal dominant neurodevelopmental disorder
ORPHA:686488Malformation syndrome
Also called ReNU syndrome
What it is
A rare, genetic, syndromic neurodevelopmental disorder characterized by global development delay with absent/poor speech, mild to profound intellectual disability, hypotonia and microcephaly. Other common clinical manifestations include brain abnormalities, behavioral disturbances, seizures, ophthalmological and skeletal manifestations, feeding difficulties, weight gain problems and distinctive facial features.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, 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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