distal trisomy 14q
MeSH: C538034ORPHA: 1705
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 distal trisomy 14q, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentGlaucomaPatent ductus arteriosusAbnormal aortic morphologyAbnormal lung lobationAbnormality of chromosome segregationShort statureAplasia/Hypoplasia of the corpus callosumAbnormality of the upper urinary tractCognitive impairment
Classification & Codes
MeSH Code
C538034Orphanet Code
ORPHA:1705distal trisomy 14q
| MeSH | C538034 |
| Orphanet | ORPHA:1705 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO