uniparental disomy 14
ORPHA: 96184
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 uniparental disomy 14, sourced from HPO and Orphanet clinical annotations.
Precocious pubertyHypotoniaMotor delayShort footPostnatal growth retardationSmall handDelayed speech and language developmentIntellectual disabilityJoint hypermobilityIntrauterine growth retardationObesitySmall for gestational agePremature birthTruncal obesityShort statureCryptorchidismNarrow mouthCleft palateBifid uvulaHigh palateFull cheeksShort philtrumMicrognathiaRecurrent otitis mediaWide noseAnteverted naresPyloric stenosisScoliosisHypercholesterolemiaMaturity-onset diabetes of the youngDepressed nasal bridgePoor fine motor coordinationProminent foreheadFeeding difficultiesClinodactyly
Classification & Codes
Orphanet Code
ORPHA:96184uniparental disomy 14
| Orphanet | ORPHA:96184 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO