Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 23-11-2015

Symbol	RUSAT
Location	7p15.2
Name	radio-ulnar synostosis with amegakaryocytic thrombocytopenia
Corresponding gene	HOXA11
Main clinical features	radioulnar synostosis in association with amegakaryocytic thrombocytopenia, proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm
Genetic determination	autosomal dominant
Function/system disorder	hematology
	limbs
Type	disease

Gene product

Name	homeo box A11

Remark(s)