Mohr-Tranebjaerg syndrome

Orpha code: 52368OMIM code: 304700

Definition

An X-linked syndromic intellectual disability characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

Disease data
Classification

Disease

Synonyms
DDON syndrome
Zespół DDON
Zespół głuchota- dystonia - neuropatia nerwu wzrokowego
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
ORPHA code
52368
OMIM code
304700
ICD10 code
E88.8
ICD11 code
-

No additional description.

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