Conditions / Genetic
non-syndromic X-linked intellectual disability 72
info · Genetic
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28.
Signs and symptoms
- Intellectual disability
- Macrocephaly
- Long face
- Global developmental delay
- Motor stereotypy
- Dolichocephaly
- Hyperactivity
- Short stature
- Seizure
- Autistic behavior
Also known as: MRX72; X-linked mental retardation 72