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corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

MeSH: C564509ORPHA: 52055

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-intellectual disability-coloboma-micrognathia syndrome, sourced from HPO and Orphanet clinical annotations.

Cleft palateHigh palateMacrocephalyRetrognathiaHigh foreheadHearing impairmentLow-set earsAbnormal pinna morphologyCupped earSensorineural hearing impairmentProminent nasal bridgeChoanal atresiaShort neckDownslanted palpebral fissuresOptic disc colobomaIris colobomaNystagmusPectus excavatumIntellectual disabilityAgenesis of corpus callosumVentricular septal defectPatent ductus arteriosusScoliosisShort stature

Classification & Codes

MeSH Code

C564509

Orphanet Code

ORPHA:52055
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
MeSHC564509
OrphanetORPHA:52055
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO