Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg) Syndrome
X-kromoszómához kötött recesszív
An X-linked condition caused by changes in TIMM8A, with hearing loss beginning in early childhood followed by dystonia and optic atrophy.
Mit változtat a diagnózis
Recognising it early avoids mistaking it for isolated hearing loss and allows counselling of female carriers in the family.
Vizsgált gének
Más néven
DDON syndrome; DDP; deafness - dystonia - optic neuronopathy syndrome; deafness dystonia optic neuronopathy syndrome (DDON); MOHR-Tranebjaerg syndrome; Mohr-Tranebjaerg syndrome, X-linked recessive; MTS
