Results for "Chorea, Benign Familial": 8 genes

Name

OPA3 Gene

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

BFIS1 Gene

benign familial infantile convulsions

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

BRV2 Gene

Vertigo, benign recurrent, 2

TELAB1 Gene

telangiectasia, benign 1

BFIS4 Gene

Convulsions, benign familial infantile, 4

BFIC2 Gene

Benign familial infantile convulsions-2

DKBI Gene

Dyskeratosis, hereditary benign intraepithelial