Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 09-10-2017

Symbol	MRX93
Location	Xq21.1
Name	mental retardation, 93
Corresponding gene	BRWD3
Main clinical features	macrocephaly, mild-to-moderate mental retardation with specific weaknesses in early language development associated with frontal bossing, and prominent ears
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	seems likely to lead to loss of normal developmental signaling and implicates the JAK/STAT pathway

Remark(s)