distal monosomy 12q
ORPHA: 96149
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 distal monosomy 12q, sourced from HPO and Orphanet clinical annotations.
Delayed gross motor developmentFlat faceLow-set earsAplasia/Hypoplasia of the middle phalanx of the 3rd fingerUnilateral cryptorchidismMaturity-onset diabetes of the youngPolycystic kidney dysplasiaHypernasal speechAbnormal facial shapeObesityBrachycephalyProminent ear helixHigh, narrow palateSmooth philtrumSmall nailCoarse facial featuresMicroglossiaLarge handsLong footProportionate tall statureMicrocephalyGeneralized tonic seizureIntellectual disabilityDiabetes mellitusShort statureHyperactivityImpaired pain sensationObsessive-compulsive traitSelf-mutilationEctopic kidneyPituitary adenomaMicrognathiaMicrotiaElbow flexion contractureKyphoscoliosisMicropenisDelayed speech and language developmentGrowth delayWide anterior fontanelSingle transverse palmar crease2-3 toe syndactylyPatent ductus arteriosusPatent foramen ovaleCongenital hypertrophy of left ventricleHigh hypermetropiaLate onset atopic dermatitisBilateral conductive hearing impairmentFailure to thrive in infancyTelecanthusUnderdeveloped supraorbital ridgesLong philtrumMedian cleft upper lipSupernumerary toothMacrocephalyDownslanted palpebral fissuresPyloric stenosisBulbous noseAnteverted naresFine hairClinodactyly of the 5th fingerPes valgusEsophageal atresiaDuodenal atresiaAnnular pancreasBiliary atresiaFrontal bossingShort middle phalanx of fingerOverlapping toeHydronephrosisVesicoureteral refluxBronchodysplasiaGlobal developmental delayGeneralized hypotoniaLarge foreheadShort neckBroad hallux
Classification & Codes
Orphanet Code
ORPHA:96149distal monosomy 12q
| Orphanet | ORPHA:96149 |
| Treatments | 0 drug(s) |
| Symptoms on record | 76 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO