distal monosomy 1q
ORPHA: 36367
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 monosomy 1q, sourced from HPO and Orphanet clinical annotations.
Short statureThin vermilion borderMicrocephalyEpicanthusRound faceHypertelorismSmooth philtrumMicrognathiaLow-set earsIntellectual disabilitySeizureGlobal developmental delayDepressed nasal bridgeAplasia/Hypoplasia of the corpus callosumProminent forehead
Classification & Codes
Orphanet Code
ORPHA:36367distal monosomy 1q
| Orphanet | ORPHA:36367 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO