Conditions / Genetic
non-syndromic X-linked intellectual disability 107
info ยท Genetic
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.
Signs and symptoms
- Global developmental delay
- Intellectual disability
- Long face
- Upslanted palpebral fissure
- Macrotia
- Mandibular prognathia
- Narrow face
- Smooth philtrum
- Autistic behavior
- Broad forehead
Also known as: MRX107; X-linked mental retardation 107