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GENATLAS PHENOTYPE

last update : 12-11-2020

Symbol	DUPXQ13
Location	Xq13.2–13.3
Name	chromosome Xq13.2–13.3 duplication
Corresponding gene	RLIM , NEXMIF , FTX , SLC16A2
Main clinical features	recognizable but mild neurocognitive phenotype in hemizygous males; the phenotype is most typically of mild ID, some features on the autistic spectrum, hyperactivity, and subtly distinctive facial features including short palpebral fissures and a relatively flat midface
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	MCA/MR

Remark(s)

RLIM is the only gene common to all duplication (PMID: 33159883))