BabelNet

bn:01950612n

Noun Concept

Categories: Extrapyramidal and movement disorders, Syndromes affecting hearing

deafness dystonia syndrome Mohr–Tranebjærg syndrome Deafness Dystonia Optic Neuronopathy Syndrome DDON syndrome Deafness-Dystonia-Optic Atrophy Syndrome

Mohr–Tranebjærg syndrome is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. Wikipedia

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Mohr–Tranebjærg syndrome is a rare X-linked recessive syndrome also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. Wikipedia

Mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems Wikidata

IS A

rare disease

genetic disease

mitochondrial disease

X-linked intellectual disability

GENETIC ASSOCIATION

TIMM8A

Wikipedia

Mohr–Tranebjærg syndrome

Wikidata

deafness dystonia syndrome

Wikipedia Redirections

Deafness-dystonia-optic neuronopathy syndrome, Deafness-dystonia syndrome, Mohr-Tranebjaerg syndrome, Mohr-Tranebjærg syndrome, Mohr–Tranebjaerg syndrome

Wikidata Alias

DDON syndrome, Deafness-Dystonia-Optic Atrophy Syndrome, Deafness-dystonia-optic neuronopathy syndrome, Deafness Dystonia Optic Atrophy Syndrome, Deafness Dystonia Optic Neuronopathy Syndrome, deafness dystonia syndrome, Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, and Mental Deficiency, Dystonia-Deafness Syndrome, Dystonia Deafness Syndrome, Jensen syndrome, Mohr-Tranebjaerg Syndrome, MOHR-TRANEBJAERG SYNDROME; MTS, MTS