deafness dystonia syndrome
Findings
No curated finding names deafness dystonia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An X-linked recessive neurodegenerative syndrome 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.
Definition from the Mondo Disease Ontology (MONDO:0010578), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal posturingHPOHP:0002533
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Intrinsic hand muscle atrophyHPOHP:0008954
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Abnormal cochlea morphologyHPOHP:0000375
- Frequent (30% to 79% of cases)
- Abnormal pyramidal sign
Show the remaining 33
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Generalized dystoniaHPOHP:0007325
- Frequent (30% to 79% of cases)
- Global brain atrophyHPOHP:0002283
- Frequent (30% to 79% of cases)
- Hyperactive deep tendon reflexesHPOHP:0006801
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TIMM8AHGNC:11817
- Definitive · ClinGen · X-linked · 2017
- Strong · Ambry Genetics · X-linked · 2018
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Strong · G2P · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: deafness dystonia syndrome
- Also called
- DDON syndromedeafness dystonia optic neuronopathy syndrome (DDON)Deafness-Dystonia-Optic Neuronopathy SyndromeMohr-Tranebjaerg syndromeMohr-Tranebjaerg syndrome, X-linked recessive