9q22.3 microdeletion
MeSH: C579873ORPHA: 77301
Overview
rare human genetic disorder
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 9q22.3 microdeletion, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityTall statureNarrow mouthOrofacial cleftTrigonocephalyMacrocephalyEpicanthusLow-set earsShort neckStrabismusRetinopathyCataractMicrophthalmiaHyperactivityPectus excavatumAbnormal rib morphologyAbnormality of the vertebral columnIntellectual disabilityHypotoniaGlobal developmental delayLarge for gestational ageUmbilical herniaBasal cell carcinomaMedulloblastomaCalcification of falx cerebriOdontogenic keratocysts of the jawPalmar pitsPlantar pitsCardiac fibromaOvarian fibromaMetopic synostosisFeeding difficultiesHydrocephalusLong philtrumDownslanted palpebral fissuresDelayed eruption of teethSeizureVentriculomegalyChiari malformationKyphosisShort noseAccelerated skeletal maturationThickened earsPolydactylyNephroblastomaRhabdomyosarcoma
Classification & Codes
MeSH Code
C579873Orphanet Code
ORPHA:773019q22.3 microdeletion
| MeSH | C579873 |
| Orphanet | ORPHA:77301 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO