/developmental malformations-deafness-dystonia syndrome

developmental malformations-deafness-dystonia syndrome

Rare Disease

MONDO:0011823

Also Known As

DJOdystonia, juvenile-onsetjuvenile-onset dystonia

Definition

Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.

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Associated Genes

ACTB ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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developmental malformations-deafness-dystonia syndrome

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases