infantile choroidocerebral calcification syndrome

MeSH: C535357ORPHA: 1313

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 infantile choroidocerebral calcification syndrome, sourced from HPO and Orphanet clinical annotations.

StrabismusSeizureHyperreflexiaCerebral calcificationSevere intellectual disability

Classification & Codes

MeSH Code

C535357

Orphanet Code

ORPHA:1313
infantile choroidocerebral calcification syndrome
MeSHC535357
OrphanetORPHA:1313
Treatments0 drug(s)
Symptoms on record5 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO