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developmental malformations-deafness-dystonia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.
Uniprot Description A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss.
Mondo Term and Equivalent IDs
MONDO:0011823:  developmental malformations-deafness-dystonia syndrome
GARD:0009818: 
MESH:C537704: 
Orphanet:79107: 
UMLS:C1846331: