maternal uniparental disomy of chromosome 2
ORPHA: 96179
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 maternal uniparental disomy of chromosome 2, sourced from HPO and Orphanet clinical annotations.
Intrauterine growth retardationAbnormality of the amniotic fluidPostnatal growth retardationHypothyroidismOligohydramniosNeonatal respiratory distressAbnormality of the ankleElevated amniotic fluid alpha-fetoproteinContractures of the large jointsChordeeHypospadiasRenal insufficiencyRenal dysplasiaRetinal degenerationDecreased response to growth hormone stimulation testPreaxial hand polydactylyPremature birthPes planusPulmonary hypoplasiaSkeletal dysplasiaImmunodeficiencyClinodactyly of the 5th fingerRespiratory infections in early lifePremature ovarian insufficiencyC1-C2 vertebral abnormalityBilateral cryptorchidismGlobal developmental delay
Classification & Codes
Orphanet Code
ORPHA:96179maternal uniparental disomy of chromosome 2
| Orphanet | ORPHA:96179 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO