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Prader-Willi syndrome due to imprinting mutation

ORPHA: 177910

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

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 Prader-Willi syndrome due to imprinting mutation, sourced from HPO and Orphanet clinical annotations.

Atypical behaviorGlobal developmental delayNeonatal hypotoniaObesityDecreased fetal movementShort footAbnormal facial shapePolyphagiaShort statureFeeding difficulties in infancySmall handAbnormal ulnar metaphysis morphologyNarrow palmHypogonadotropic hypogonadismHypopigmentation of the skinExternal genital hypoplasiaHypopigmentation of hairIris hypopigmentation

Classification & Codes

Orphanet Code

ORPHA:177910
Prader-Willi syndrome due to imprinting mutation
OrphanetORPHA:177910
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO