ataxia-deafness-intellectual disability syndrome
MeSH: C535295ORPHA: 1188
Overview
This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ataxia-deafness-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilitySensorineural hearing impairmentStrabismusNystagmusIntellectual disabilityAtaxiaAbnormal palate morphologyDecreased nerve conduction velocityHypotoniaReduced tendon reflexesVentriculomegalyCerebral cortical atrophyAbnormal speech patternScoliosisSkeletal muscle atrophyEMG abnormalityAplasia/Hypoplasia of the cerebellum
Classification & Codes
MeSH Code
C535295Orphanet Code
ORPHA:1188ataxia-deafness-intellectual disability syndrome
| MeSH | C535295 |
| Orphanet | ORPHA:1188 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO