chromosome 17q12 deletion syndrome
ORPHA: 261265
Overview
rare human disease caused by partial deletion of the long arm of chromosome 17
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 chromosome 17q12 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Multicystic kidney dysplasiaCryptorchidismShawl scrotumUreteroceleRenal insufficiencyLarge fontanellesHearing impairmentAutismDiabetes mellitusIntellectual disabilitySeizureGlobal developmental delayOligohydramniosCerebral atrophyLanguage impairmentElevated circulating hepatic transaminase concentrationShort statureRenal hypoplasia/aplasiaFeeding difficultiesSubcortical cerebral atrophyPancreatic aplasia
Classification & Codes
Orphanet Code
ORPHA:261265chromosome 17q12 deletion syndrome
| Orphanet | ORPHA:261265 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO