chromosome 16p11.2 deletion syndrome, 220kb
ORPHA: 261222
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 chromosome 16p11.2 deletion syndrome, 220kb, sourced from HPO and Orphanet clinical annotations.
Narrow mouthLow anterior hairlineOval faceProminent nasal bridgeRod-cone dystrophyRetinal dystrophyDelayed speech and language developmentArachnodactylyGlobal developmental delayNeonatal hypotoniaAttention deficit hyperactivity disorderVesicoureteral refluxAbnormality of the kidneyProteinuriaRenal agenesisAutistic behaviorIntellectual disabilitySeizureObesityHyperuricemiaAganglionic megacolonModerate receptive language delayChronic constipationChronic kidney diseaseMigraineKyphosis
Classification & Codes
Orphanet Code
ORPHA:261222chromosome 16p11.2 deletion syndrome, 220kb
| Orphanet | ORPHA:261222 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO