X-linked intellectual disability with isolated growth hormone deficiency
ORPHA: 67045
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 X-linked intellectual disability with isolated growth hormone deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased response to growth hormone stimulation testIntellectual disabilityShort statureDecreased circulating serum insulin-like growth factor 1 concentrationAbnormal saccadic eye movementsOculomotor apraxiaHypoplasia of the corpus callosumDelayed skeletal maturationGaze-evoked horizontal nystagmusAnterior pituitary hypoplasiaMild global developmental delayEctopic posterior pituitaryAbnormal myelinationSmall posterior fossa
Classification & Codes
Orphanet Code
ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency
| Orphanet | ORPHA:67045 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO