Families

RABGAP1-related neurodevelopmental disorder is a rare genetic condition that affects brain development and can affect several other parts of the body.

Children with this condition usually have significant developmental delay and intellectual disability. This means that they learn new skills more slowly than other children and may need substantial support with communication, movement, learning and everyday activities.

Many children have a small head , called microcephaly. Hearing loss affecting both ears is also common in the children who have been reported so far. Some children have seizures.

Brain scans may show differences in how the brain develops. These can include slower development of the brain's white matter, a smaller amount of white matter, enlargement of the fluid-filled spaces in the brain, and a thinner structure connecting the two sides of the brain called the corpus callosum.

Some children have differences in muscle tone, such as low muscle tone or increased muscle stiffness. Differences in facial appearance have also been described.

RABGAP1-related neurodevelopmental disorder is caused by changes in both copies of the RABGAP1gene. It is inherited in an autosomal recessive manner. Parents of an affected child are usually healthy carriers of one changed copy of the gene.

Only a small number of affected people have been described so far. Therefore, doctors and researchers are still learning about the condition, and not every person will have all of the features described above.