attenuated Chédiak-Higashi syndrome

ORPHA: 352723

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 attenuated Chédiak-Higashi syndrome, sourced from HPO and Orphanet clinical annotations.

Gingival bleedingEpistaxisBruising susceptibilityOcular albinismIntellectual disabilityHypertoniaAbnormality of coagulationAbnormality of extrapyramidal motor functionRecurrent respiratory infectionsIncoordinationImmunodeficiencyGeneralized hypopigmentationPeripheral neuropathyAbnormality of movementSkin ulcer

Classification & Codes

Orphanet Code

ORPHA:352723
attenuated Chédiak-Higashi syndrome
OrphanetORPHA:352723
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO