| Name |
|---|
EPRPDC GeneEpilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp |
PNKD2 Geneparoxysmal nonkinesigenic dyskinesia 2 |
PNKD Geneparoxysmal nonkinesigenic dyskinesia This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] |
CSE Genechoreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity) |
BFIS1 Genebenign familial infantile convulsions |
ECB2 Geneerythrocytosis, autosomal recessive benign 2 |
BRV2 GeneVertigo, benign recurrent, 2 |
TELAB1 Genetelangiectasia, benign 1 |
BFIS4 GeneConvulsions, benign familial infantile, 4 |
BFIC2 GeneBenign familial infantile convulsions-2 |
DKBI GeneDyskeratosis, hereditary benign intraepithelial |