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Echinobase
Summary Literature (0)
DOID:0090048 - dystonia 16

Disease Ontology Definition:A multifocal dystonia characterized by autosomal recessive inheritance of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism that has_material_basis_in homozygous mutation in the PRKRA gene on chromosome 2q31.

Synonyms:

Echinobase Genes :


OMIM:
MIM:612067 - dystonia 16; dyt16

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): multifocal dystonia (is_a)