monosomy 13q34
ORPHA: 96168
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 monosomy 13q34, sourced from HPO and Orphanet clinical annotations.
HypercalcemiaMild intellectual disabilityGlobal developmental delayGrowth delayObesityAbnormal facial shapeMicrocephalyHypertelorismBroad foreheadProminent nasal bridgeProminent noseBroad nasal tipDownslanted palpebral fissuresAbnormality of the coagulation cascadeEpicanthusMicrognathiaPosteriorly rotated earsAbnormal earlobe morphologyEpistaxisInsulin resistanceHepatic steatosisPulmonic stenosisPes planusHematocheziaProlonged partial thromboplastin timeProlonged prothrombin timeFetal pyelectasisHorizontal eyebrowCommon atriumMetrorrhagiaPostaxial hand polydactylyAgenesis of corpus callosumPostaxial foot polydactylyKeratosis pilarisOsteochondrosis
Classification & Codes
Orphanet Code
ORPHA:96168monosomy 13q34
| Orphanet | ORPHA:96168 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO