Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 13-11-2013

Symbol	WRWF
Location	Xq11.2
Name	Wieacker-Wolf syndrome
Corresponding gene	ZC4H2
Main clinical features	severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems characterized by onset of muscle weakness in utero (fetal akinesia), severe contractures, known as arthrogryposis, and delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus with mental retardation
Genetic determination	sex linked
Function/system disorder	mental retardation
	neuromuscular
Type	disease

Remark(s)