distal monosomy 19p13.3
ORPHA: 96129
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 19p13.3, sourced from HPO and Orphanet clinical annotations.
Cleft palateLong faceShort philtrumHypoplasia of the maxillaConductive hearing impairmentSensorineural hearing impairmentThick eyebrowArachnodactylyIntellectual disabilitySeizureHypotoniaGlobal developmental delayUmbilical herniaAlopeciaVentricular septal defectTricuspid valve prolapseDecreased circulating immunoglobulin concentrationLong toeKeloidsPulmonary valve atresiaVaginal herniaJoint hypermobilityPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:96129distal monosomy 19p13.3
| Orphanet | ORPHA:96129 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO