Conditions / Genetic

syndromic X-linked mental retardation 35

info ยท Genetic

A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28.

Signs and symptoms

  • Gait ataxia
  • Hypotonia
  • Intellectual disability
  • Spondyloepiphyseal dysplasia
  • Global developmental delay
  • Long philtrum
  • Recurrent infections
  • Cerebellar hypoplasia
  • Cryptorchidism
  • Mandibular prognathia