paternal 14q32.2 hypomethylation syndrome
ORPHA: 254531
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 paternal 14q32.2 hypomethylation syndrome, sourced from HPO and Orphanet clinical annotations.
Small handPrecocious pubertyObesityPostnatal growth retardationProminent foreheadFeeding difficultiesHigh palateShort philtrumMicrognathiaRecurrent otitis mediaWide noseAutistic behaviorReduced eye contactIntellectual disabilityScoliosisHypercholesterolemiaDecreased facial expressionMaturity-onset diabetes of the youngPoor fine motor coordinationFloppy infantReduced social responsivenessClinodactylyDelayed speech and language developmentHypotoniaMotor delayJoint hypermobilityIntrauterine growth retardationShort foot
Classification & Codes
Orphanet Code
ORPHA:254531paternal 14q32.2 hypomethylation syndrome
| Orphanet | ORPHA:254531 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO