13q12.3 microdeletion syndrome
ORPHA: 412035
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 13q12.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Low insertion of columellaCamptodactylyUpper eyelid edemaCryptorchidismHearing impairmentChronic otitis mediaCongenital diaphragmatic herniaHip dysplasiaObesityKyphoscoliosisObstructive sleep apneaAllergyHemihypotrophy of lower limbThin upper lip vermilionMalar flatteningUnderdeveloped nasal alaeHypermetropiaOligodontiaSelf-mutilationDelayed speech and language developmentHyperactivityAtopic dermatitisFailure to thriveIntrauterine growth retardationVomitingConstipationRecurrent respiratory infectionsModerate intellectual disabilityShort statureImpaired pain sensation
Classification & Codes
Orphanet Code
ORPHA:41203513q12.3 microdeletion syndrome
| Orphanet | ORPHA:412035 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO