ataxia - deafness - intellectual disability syndrome
MONDO:0008838Mondo
Findings
No curated finding names ataxia - deafness - intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by progressive ataxia beginning during childhood, deafness and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0008838), read 2026-09-29. CC BY 4.0.
Features
17 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.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
Show the remaining 5
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: ataxia - deafness - intellectual disability syndrome
- Also called
- ataxia-hearing loss-intellectual disability syndromeReardon-Baraitser syndrome