Conditions / Genetic
syndromic X-linked intellectual disability Raymond type
info · Genetic · ICD-10: Q87.8
A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1.
Signs and symptoms
- Intellectual disability
- Arachnodactyly
- Joint contracture of the 5th finger
- Strabismus
- Disproportionate tall stature
- Pectus carinatum
- Protruding ear
- Pes planus
- Atypical behavior
Also known as: MRXSR; X-linked syndromic intellectual developmental disorder Raymond type; mental retardation, X-linked syndromic, Raymond type