Jensen syndrome

Definition:

Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia peptide (TIMM8a) gene.

References:

[1]. L Tranebjaerg, et al. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. Ophthalmic Genet. 2001 Dec;22(4):207-23. [Content Brief]

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