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short stature due to partial GHR deficiency

ORPHA: 314802

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 short stature due to partial GHR deficiency, sourced from HPO and Orphanet clinical annotations.

Delayed pubertyDelayed skeletal maturationGrowth delayShort statureHypoglycemiaMidface retrusionDecreased circulating serum insulin-like growth factor 1 concentration

Classification & Codes

Orphanet Code

ORPHA:314802
short stature due to partial GHR deficiency
OrphanetORPHA:314802
Treatments0 drug(s)
Symptoms on record7 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
short stature due to partial GHR deficiency | OrphanDrug