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short stature due to GHSR deficiency

ORPHA: 314811

Contents

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

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 GHSR deficiency, sourced from HPO and Orphanet clinical annotations.

Delayed pubertyDelayed skeletal maturationGrowth delayShort statureHypoglycemiaKetosisVomitingAbdominal painAbnormality of body weightDecreased body weightDecreased circulating serum insulin-like growth factor 1 concentration

Classification & Codes

Orphanet Code

ORPHA:314811
short stature due to GHSR deficiency
OrphanetORPHA:314811
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO