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GENATLAS PHENOTYPE
last update : 30-06-2012
Symbol DDOA
Location Xq22.1
Name deafness-dystonia-optic atrophy syndrome
Other name(s)
  • Mohr-Tranebjaerg syndrome
  • Deafness-Dystonia-Optic Neuropathy
    • Corresponding gene TIMM8A
    Other symbol(s) MTS, DDTS, DDP, DDON
    Main clinical features
  • progressive form of deafness, associated with fractures and mental retardation, myopia, decreased visual acuity, constricted visual fields, and abnormal electroretinogram, a progressive syndrome that included visual disability leading to cortical blindness, dystonia, fractures, and mental deficiency
  • postlingual sensorineural hearing impairment in early childhood and a variable onset of slowly progressive dystonia or ataxia
    • Genetic determination sex linked
    Function/system disorder ear
    eye
    mental retardation
    Type disease
    Gene product
    Name translocase of inner mitochondrial membrane 8
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein 127delT
    abnormal splicing   abnormal protein/loss of function  
    Remark(s)