Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 10-10-2017
Symbol MRXS35
Location Xq28
Name mental retardation, X-linked, syndromic, 35
Corresponding gene RPL10
Main clinical features
  • dysmorphic facial features, including prognathism, with dental crowding or thin upper lip; progressive microcephaly (up to -9.6 SD), seizures, hypotonia, gastroesophageal reflux disease with severe growth retardation, and genitourinary abnormalities, namely cryptorchidism and/or hypospadias
  • delayed walking with ataxia, and also cerebellar hypoplasia, and spondylo-epiphyseal dysplasia (SED) in any cases
  • Genetic determination sex linked
    Function/system disorder neurology
    sex-genitalia
    mental retardation
    Type MCA/MR
    Remark(s)