Gillespie syndrome

MeSH: C536370ORPHA: 1065

Overview

medical condition

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 Gillespie syndrome, sourced from HPO and Orphanet clinical annotations.

Mask-like faciesHearing abnormalityAniridiaIntellectual disabilityAtaxiaHypotoniaGlobal developmental delayAbnormal speech patternScanning speechAbnormality of the pulmonary arteryAbnormality of movement

Classification & Codes

MeSH Code

C536370

Orphanet Code

ORPHA:1065
Gillespie syndrome
MeSHC536370
OrphanetORPHA:1065
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO