atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
ORPHA: 1192
Overview
medical condition
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 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentPhotosensitive myoclonic seizureCoronary artery atherosclerosisAnemiaProgressive neurologic deteriorationAbnormality of mitochondrial metabolismShort statureCerebral artery atherosclerosisType I diabetes mellitusCryptorchidismProteinuriaNephrotic syndromeNephropathyHypertensionHypertoniaGait disturbanceTremorLimitation of joint mobilityAbnormal mitral valve morphologyCerebral cortical atrophyHyperlordosisAplasia/Hypoplasia of the cerebellumArterial stenosis
Classification & Codes
Orphanet Code
ORPHA:1192atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
| Orphanet | ORPHA:1192 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO