mosaic monosomy XX/X0
ORPHA: 99228
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 mosaic monosomy XX/X0, sourced from HPO and Orphanet clinical annotations.
Abnormal pinna morphologyAbnormality of the ovaryShort neckDelayed pubertyIncreased circulating gonadotropin levelShort sternumOsteopeniaOsteoporosisGrowth delayIntrauterine growth retardationDelayed skeletal maturationCubitus valgusHigh urinary gonadotropin levelShort statureWide intermamillary distanceAplasia/Hypoplasia of the nipplesPremature ovarian insufficiencyFemale infertilityPostnatal growth retardationIncreased upper to lower segment ratioAbnormal forearm bone morphologyEnlarged thoraxHigh palateRetrognathiaMicrognathiaHearing impairmentLow-set earsRecurrent otitis mediaWebbed neckThickened nuchal skin foldBroad neckAtypical behaviorAnxietyAbnormal nonverbal communicative behaviorPrimary amenorrheaHypertensionSecondary amenorrheaHashimoto thyroiditisShield chestSpecific learning disabilityHepatic steatosisObesityFailure to thrive in infancyHypoplastic toenailsGlucose intoleranceLow posterior hairlineHigh, narrow palateKyphosisGenu valgumElevated circulating hepatic transaminase concentrationAortic arch aneurysmDermatoglyphic ridges abnormalEnlargement of the distal femoral epiphysisArterial dissectionRenal hypoplasia/aplasiaNeurodevelopmental delayIrregular proximal tibial epiphysesAbnormal dermatoglyphicsNeck pterygiaShort 4th metacarpalShort 5th metacarpalHypermobility of toe jointsHorseshoe kidneyEctopic kidneyAbnormality of the dentitionEpicanthusCystic hygromaStrabismusPtosisMyopiaDepressionPectus excavatumHyperinsulinemiaAtypical scarring of skinMelanocytic nevusLymphedemaVitiligoAbnormal fingernail morphologyHip dysplasiaHepatic fibrosisAlopeciaAtrial septal defectBicuspid aortic valveProlonged QT intervalMyocardial infarctionCoarctation of aortaPes planusHyperconvex fingernailsShort toeCeliac diseaseCholestatic liver diseaseScoliosisAutoimmunityMadelung deformityInverted nipplesNevusReduced bone mineral densityNumerous congenital melanocytic neviType II diabetes mellitusAttention deficit hyperactivity disorderAplasia/Hypoplasia of the mandibleSplayed toesDelayed early-childhood social milestone developmentThyroiditisGonadoblastomaGastrointestinal angiodysplasiaCirrhosisInflammation of the large intestineBiliary cirrhosisAortic dissectionMelanomaHypoplastic left ventricleGastrointestinal inflammation
Classification & Codes
Orphanet Code
ORPHA:99228mosaic monosomy XX/X0
| Orphanet | ORPHA:99228 |
| Treatments | 0 drug(s) |
| Symptoms on record | 113 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO