DYSTONIA 23

DYT23

http://purl.bioontology.org/ontology/OMIM/614860

DYT23

C3538999

9q34

DYT23

http://purl.bioontology.org/ontology/OMIM/MTHU040504

http://purl.bioontology.org/ontology/OMIM/MTHU040502

http://purl.bioontology.org/ontology/OMIM/MTHU050806

http://purl.bioontology.org/ontology/OMIM/MTHU001899

http://purl.bioontology.org/ontology/OMIM/MTHU050801

http://purl.bioontology.org/ontology/OMIM/MTHU002761

http://purl.bioontology.org/ontology/OMIM/MTHU016941

http://purl.bioontology.org/ontology/OMIM/MTHU040503

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU000767

http://purl.bioontology.org/ontology/OMIM/MTHU001203

http://purl.bioontology.org/ontology/OMIM/MTHU018503

http://purl.bioontology.org/ontology/OMIM/MTHU036689

http://purl.bioontology.org/ontology/OMIM/MTHU050800

http://purl.bioontology.org/ontology/OMIM/MTHU002471

http://purl.bioontology.org/ontology/OMIM/MTHU050805

http://purl.bioontology.org/ontology/OMIM/MTHU002917

http://purl.bioontology.org/ontology/OMIM/MTHU001654

http://purl.bioontology.org/ontology/OMIM/MTHU069465

http://purl.bioontology.org/ontology/OMIM/MTHU000136

Mendelian phenotype or locus, molecular basis unknown.

614860

5

perc

DYSTONIA 23

Variable age at onset [MISCELLANEOUS]

Caused by mutation in the voltage-dependent calcium channel, N type, alpha-1B subunit gene (CACNA1B, 601012.0001) [MOLECULAR BASIS]

Progressive disorder [MISCELLANEOUS]

Myoclonus occurs at rest and with action [MISCELLANEOUS]

One family with a CACNA1B mutation has been reported (last curated March 2015) [MISCELLANEOUS]

T047