9p13 microdeletion syndrome
ORPHA: 324313
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 9p13 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
MicroretrognathiaWide nasal bridgeAnteverted naresAtypical behaviorMyoclonusBruxismShort statureAttention deficit hyperactivity disorderMild global developmental delayBrachycephalyLow-set earsEsotropiaHand tremorAbnormal external ear cartilage morphologyHigh palateEpicanthusRecurrent otitis mediaHypermetropiaThick eyebrowPrecocious pubertyCafe-au-lait spotDry skinJoint stiffnessUmbilical herniaHyperconvex nailHypoplastic toenailsHighly arched eyebrowScoliosisExternal genital hypoplasiaClinodactyly of the 5th fingerAbsent palmar creaseMetopic synostosis
Classification & Codes
Orphanet Code
ORPHA:3243139p13 microdeletion syndrome
| Orphanet | ORPHA:324313 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO