Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 26-02-2016

Symbol	MRX99
Location	Xp11.4
Name	mental retardation, X-linked 99
Corresponding gene	USP9X
Main clinical features	developmental delay, aggressive behavior, and hypotonia, relative macrocephaly, facial dysmorphism, broad thumbs and great toes, short stature, constipation, and hyperextensibility of joints and skin, speech development most affected
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Remark(s)

. USP9X is required for normal neuronal cell migration and variant USP9X forms probably disrupt this process during brain development of the affected individuals (PMID: 24607389))