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corpus callosum agenesis-abnormal genitalia syndrome

MeSH: C563110ORPHA: 2508

Contents

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

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 corpus callosum agenesis-abnormal genitalia syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaHypospadiasRenal dysplasiaMicrocephalyCoarse facial featuresProtruding earStrabismusNystagmusSeizureSpasticityAgenesis of corpus callosumCerebral cortical atrophyGeneralized hirsutismTetraplegiaScoliosisAbnormal hip bone morphologyShort statureRenal hypoplasia/aplasiaAbnormal hair patternSevere intellectual disabilitySevere global developmental delay

Classification & Codes

MeSH Code

C563110

Orphanet Code

ORPHA:2508
corpus callosum agenesis-abnormal genitalia syndrome
MeSHC563110
OrphanetORPHA:2508
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO