RNU4-2-related neurodevelopmental disorder
OMIM number: N/A
Comments closing date: 17/12/2025
RNU4-2-related neurodevelopmental disorder is a rare genetic condition that affects how the brain develops and functions. It is caused by changes in the RNU4-2 gene, which helps produce a molecule essential for processing genetic instructions in cells. When both copies of this gene
are altered (inherited recessively), it leads to a distinct disorder separate from the previously
known dominant form called ReNU syndrome (OMIM 620851). Children with this recessive
condition often show developmental delays, especially in speech and motor skills. Many have
intellectual disabilities, and some experience seizures. Brain scans frequently reveal white
matter abnormalities, particularly enlarged perivascular spaces, fluid-filled areas around
blood vessels in the brain. These features are different from those seen in the dominant form of
the disorder. The severity of symptoms can vary, but most affected individuals require support with
learning and daily activities. Some may have low muscle tone, coordination issues, or behavioural
challenges. Importantly, this condition does not appear to worsen over time, but early diagnosis
can help families access therapies and support.
