agenesis of the corpus callosum with peripheral neuropathy
ORPHA: 1496
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 agenesis of the corpus callosum with peripheral neuropathy, sourced from HPO and Orphanet clinical annotations.
MicrocephalyTurricephalyStrabismusMyopiaNystagmusIntellectual disabilitySeizureGlobal developmental delayAgenesis of corpus callosumCraniosynostosisEEG abnormalityAqueductal stenosisHemiplegia/hemiparesisAbnormal retinal pigmentation
Classification & Codes
Orphanet Code
ORPHA:1496agenesis of the corpus callosum with peripheral neuropathy
| Orphanet | ORPHA:1496 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO