22q13 deletion syndrome
ICD-10: Q93MeSH: C536801ORPHA: 48652
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 22q13 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Vesicoureteral refluxRenal dysplasiaHydronephrosisMacrocephalyDolichocephalyMalar flatteningEpicanthusFull cheeksPointed chinHearing impairmentMacrotiaBulbous noseWide nasal bridgeStrabismusDeeply set eyePtosisLong eyelashesHypermetropiaThick eyebrowDental crowdingDental malocclusionAutistic behaviorDelayed speech and language developmentHyperactivitySacral dimpleHypohidrosisLymphedemaLarge handsIntellectual disabilitySeizureGlobal developmental delayAgenesis of corpus callosumNeonatal hypotoniaObesityUmbilical herniaRecurrent skin infectionsHypoplastic toenailsNausea and vomitingGastroesophageal refluxSleep disturbanceImmunodeficiencyBruxismClinodactyly of the 5th fingerAccelerated skeletal maturationImpaired pain sensationCerebellar cortical atrophyFeeding difficultiesHair-pullingRecurrent pyelonephritisPalpebral edemaArachnoid cyst
Classification & Codes
ICD-10 Code
Q93MeSH Code
C536801Orphanet Code
ORPHA:4865222q13 deletion syndrome
| ICD-10 | Q93 |
| MeSH | C536801 |
| Orphanet | ORPHA:48652 |
| Treatments | 0 drug(s) |
| Symptoms on record | 51 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO