Mohr-Tranebjaerg syndrome(redirected from DFN1)
Mohr-Tranebjaerg syndromeAn autosomal recessive neurodegenerative syndrome (OMIM:304700) characterised by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration and cortical blindness.
Defects of TIMM8A, which encodes a translocase, cause Mohr-Tranebjaerg syndrome.
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