Children with RABGAP1-related neurodevelopmental disorder can have significant difficulties with development and learning.
Development and learning
All of the children reported so far had significant developmental delay and intellectual disability. Children may need ongoing help with learning, communication, movement and daily activities.
Head
Many children have microcephaly, which means that the head is smaller than expected for age and sex.
Hearing
Hearing loss affecting both ears has been found in most of the children reported so far. This hearing loss may be present from birth. Regular hearing tests are therefore important.
Seizures
Some children have epilepsy. Different types of seizures have been reported, including absence seizures and seizures that can spread to involve the whole body. A small number of reported children have had prolonged or severe seizures.
Movement
Some children have low muscle tone, while others develop increased muscle stiffness or spasticity. Some children also have increased reflexes.
Brain scans
MRI scans may show differences in brain development, including delayed development of the brain's white matter, reduced white matter, enlargement of the fluid spaces in the brain and a thinner corpus callosum.
Eyes and facial appearance
Drooping of one eyelid and eye misalignment have each been reported in one child. Some children have similar facial characteristics, including a prominent or beaked nose, a small lower jaw and joined or broad eyebrows.
Because only a few children with this condition are known, doctors cannot yet predict which features a particular child will develop.
RABGAP1