motor developmental delay due to 14q32.2 paternally expressed gene defect
ORPHA: 254516
Overview
cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father
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 motor developmental delay due to 14q32.2 paternally expressed gene defect, sourced from HPO and Orphanet clinical annotations.
Precocious pubertyMotor delaySmall for gestational ageShort footPostnatal growth retardationFloppy infantSmall handDelayed speech and language developmentMild intellectual disabilityObesityPremature birthShort statureRelative macrocephalyFeeding difficulties in infancyFeeding difficultiesNasogastric tube feedingCryptorchidismPolyphagiaScoliosisType II diabetes mellitusBifid uvulaHydrocephalusPointed chinDecreased response to growth hormone stimulation testRecurrent hypoglycemiaFrontal bossingClinodactyly of the 5th fingerFew cafe-au-lait spots
Classification & Codes
Orphanet Code
ORPHA:254516motor developmental delay due to 14q32.2 paternally expressed gene defect
| Orphanet | ORPHA:254516 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO