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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))