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GENATLAS PHENOTYPE

last update : 26-02-2016

Symbol	MRX98
Location	Xq13.3
Name	mental retardation, X-linked 98
Corresponding gene	NEXMIF
Main clinical features	mild to severe ID with severe language delay and repetitive behaviors falling in the range of an autism spectrum disorder (ASD), facial dysmorphism with round face, strabismus, squint, short nose and prognathism, also cases with generalized seizures and microcephaly no structural brain abnormalities on magnetic resonance imaging (MRI)
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Remark(s)

complete loss of function might account for such a severe phenotype in these families with either disruption of KIAA2022 exon 1 or a c.2597dupA protein-truncating mutation (PMID: 23615299))