Catalog

Deafness-dystonia optic atrophy syndrome

No MMS code

Link to WHO Definition

Deafness-dystonia optic atrophy syndrome – http://id.who.int/icd/entity/1905672554

An X-linked neurodegenerative syndrome characterized by prelingual or postlingual sensorineural hearing loss, progressive dystonia and visual impairment. In addition, psychiatric symptoms, cognitive impairment and behavioural problems may appear. It is also called Mohr-Tranebjærg Syndrome.

Parents