Conditions / Genetic
non-syndromic X-linked intellectual disability 100
info · Genetic
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1.
Signs and symptoms
- Delayed speech and language development
- Intellectual disability
- Bilateral tonic-clonic seizure
- Generalized non-motor (absence) seizure
- Abnormal facial shape
Also known as: MRX100; X-linked mental retardation 100