Microtriplication 11q24.1
ORPHA: 289522
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 Microtriplication 11q24.1, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresHypertelorismSmooth philtrumShort philtrumPosteriorly rotated earsWide noseLong eyelashesKeratoconusThick eyebrowUpslanted palpebral fissureSynophrysDelayed speech and language developmentIntellectual disabilityJoint dislocationLimitation of joint mobilityObesityTalipes equinovarusShort footMetatarsus adductusAbnormal facial shapeHyperkinetic movementsGenu valgumHyperlipidemiaBruxismClinodactyly of the 5th fingerShort statureIrregularly spaced teethAttached earlobeSpeech apraxiaBroad chinSmall handCleft palateMicrocephalyHearing impairmentShort neckGeneralized hypotoniaScoliosisRetrocerebellar cyst
Classification & Codes
Orphanet Code
ORPHA:289522Microtriplication 11q24.1
| Orphanet | ORPHA:289522 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO