maternal 14q32.2 hypermethylation syndrome
ORPHA: 254534
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 14q32.2 hypermethylation syndrome, sourced from HPO and Orphanet clinical annotations.
Mild intellectual disabilityGlobal developmental delayPolyhydramniosThoracic hypoplasiaLarge placentaCoat hanger sign of ribsFeeding difficulties in infancyHypotoniaLarge for gestational ageDiastasis rectiPoor suckPostnatal growth retardationSmall for gestational ageUmbilical herniaOmphaloceleOvergrowthAbnormal heart morphologyVentricular septal defectDelayed gross motor development
Classification & Codes
Orphanet Code
ORPHA:254534maternal 14q32.2 hypermethylation syndrome
| Orphanet | ORPHA:254534 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO