Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg) Syndrome
X-vázaně recesivní
An X-linked condition caused by changes in TIMM8A, with hearing loss beginning in early childhood followed by dystonia and optic atrophy.
Co se diagnózou změní
Recognising it early avoids mistaking it for isolated hearing loss and allows counselling of female carriers in the family.
Analyzované geny
Známé také jako
DDON syndrome; DDP; deafness - dystonia - optic neuronopathy syndrome; deafness dystonia optic neuronopathy syndrome (DDON); MOHR-Tranebjaerg syndrome; Mohr-Tranebjaerg syndrome, X-linked recessive; MTS
