Conditions / Genetic
X-linked intellectual disability-psychosis-macroorchidism syndrome
info · Genetic · ICD-10: F71.1
A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
Signs and symptoms
- Mild intellectual disability
- Bradykinesia
- Dystonia
- Seizure
- Flexion contracture
- Apraxia
- Restlessness
- Delayed ability to sit
- Intellectual disability
- Facial hypotonia
Also known as: Lindsay-Burn syndrome; MRXS13; PPM-X; X-linked mental retardation 79; X-linked mental retardation with spasticity