Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 30/06/2006

Symbol	FRDA2
Location	9p23-p11
HGNC id	3952
Name	Friedreich ataxia 2
Main clinical features	characterized by dysarthria, areflexia, pyramidal weakness of the legs, extensor palmar response, distal loss of joint position and vibration sense . complicated by a cardiomyopathy which is the most frequent cause of death, and diabetes
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	neurology
Type	disease