Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 13-01-2016

Symbol	MRXS33
Location	Xq13.1
Name	X-linked syndromic mental retardation-33
Corresponding gene	TAF1
Main clinical features	neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features intellectual disability with delayed speech and language, generalized hypotonia, and joint hypermobility common facial dysmorphic features included prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, sagging cheeks, long philtrum, low-set and protruding ears, long face, high-arched palate
Genetic determination	sex linked
Function/system disorder
Type	disease

Remark(s)