polymicrogyria with optic nerve hypoplasia
MeSH: C567715ORPHA: 250972
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 polymicrogyria with optic nerve hypoplasia, sourced from HPO and Orphanet clinical annotations.
Optic nerve hypoplasiaAbnormality of the nervous systemSeizureHyporeflexiaNeonatal hypotoniaAbsent speechPolymicrogyriaSevere global developmental delayColpocephalyAgenesis of corpus callosumBilateral tonic-clonic seizureHypoplasia of the brainstemDysplastic corpus callosumInfantile spasms
Classification & Codes
MeSH Code
C567715Orphanet Code
ORPHA:250972polymicrogyria with optic nerve hypoplasia
| MeSH | C567715 |
| Orphanet | ORPHA:250972 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO