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corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA: 459074

Contents

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

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 corpus callosum agenesis-macrocephaly-hypertelorism syndrome, sourced from HPO and Orphanet clinical annotations.

MacrocephalyBroad foreheadAgenesis of corpus callosumHypertelorismMild intellectual disabilityPlagiocephalyChiari type I malformationFacial asymmetryGeneralized-onset seizureBorderline intellectual disability

Classification & Codes

Orphanet Code

ORPHA:459074
corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphanetORPHA:459074
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO