Conditions / Genetic
non-syndromic X-linked intellectual disability 41
info ยท Genetic
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.
Signs and symptoms
- Intellectual disability
- Severe intellectual disability
- Global developmental delay
- Specific learning disability
- Mild intellectual disability
- Axial hypotonia
- Generalized non-motor (absence) seizure
Also known as: MRX41; MRX48; X-linked mental retardation 41; X-linked mental retardation 48