ring chromosome 17
MeSH: C538046ORPHA: 1441
Overview
human disease
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 ring chromosome 17, sourced from HPO and Orphanet clinical annotations.
Cafe-au-lait spotIntellectual disabilitySeizureGlobal developmental delayShort statureRetinal flecksMicrocephalyEpicanthusMicrognathiaWide nasal bridgeDelayed speech and language developmentHypotoniaSpecific learning disabilityLissencephalyGrowth delayIntrauterine growth retardationToe syndactylyClinodactyly
Classification & Codes
MeSH Code
C538046Orphanet Code
ORPHA:1441ring chromosome 17
| MeSH | C538046 |
| Orphanet | ORPHA:1441 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO