Conditions / Genetic
syndromic X-linked intellectual disability Shashi type
info · Genetic · ICD-10: Q87.8
A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.
Signs and symptoms
- Moderate intellectual disability
- Macroorchidism
- Blepharophimosis
- Narrow palpebral fissure
- Coarse facial features
- Periorbital fullness
- Bulbous nose
- Macrotia
- Thick lower lip vermilion
- Prominent supraorbital ridges
Also known as: MRXS11; SMRXS; Shashi X-linked mental retardation syndrome; Shashi type of X-linked syndromic intellectual developmental disorder; X-linked mental retardation Shashi type