20q11.2 microdeletion syndrome
ORPHA: 444051
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 20q11.2 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Deeply set eyeGlobal developmental delayHigh foreheadIntrauterine growth retardationHypertelorismShort philtrumHearing impairmentAbnormality of the eyeAbnormality of the earAtypical behaviorHypotoniaTalipes calcaneovalgusFrontal bossingBrainstem dysplasiaMidface retrusionCamptodactylyFinger clinodactylyBrachydactylyAdducted thumb
Classification & Codes
Orphanet Code
ORPHA:44405120q11.2 microdeletion syndrome
| Orphanet | ORPHA:444051 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO