Conditions / Genetic
non-syndromic X-linked intellectual disability 103
info · Genetic
A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11.
Signs and symptoms
- Wide mouth
- Lateral ventricle dilatation
- Micropenis
- Absent speech
- Delayed speech and language development
- Short palm
- Anteverted nares
- Delayed ability to walk
- Seizure
- Global developmental delay
Also known as: MRX103; X-linked mental retardation 103