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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : mrxs14
Symbol MRXS14
Location Xq24
Name mental retardation, X-linked, syndromic 14
Corresponding gene UPF3B
Main clinical features
  • intellectual disability (ID, syndromic and non-syndromic), autism, childhood onset schizophrenia and attention deficit hyperactivity disorder
  • mild to severe mental retardation, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities
  • in any cases renal dysplasia, or congenital heart defect
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
    Remark(s) . neurodevelopmental phenotype of UPF3B missense mutation is caused by impairment of NMD function altering neuronal differentiation (PMID: 26012578))