Warburg micro syndrome
MeSH: C536681ORPHA: 2510
Overview
autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism
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 Warburg micro syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsCryptorchidismHigh palateMicrocephalyShort philtrumWide nasal bridgeAnteverted naresMicrocorneaCataractMicrophthalmiaOptic atrophyDelayed pubertyHypotoniaSpasticityGlobal developmental delayPachygyriaLissencephalyJoint stiffnessShort noseShort statureAplasia/Hypoplasia of the corpus callosumSevere intellectual disabilityCerebral visual impairmentClitoral hypoplasiaHypoplastic labia minoraMicrognathiaMacrotiaAbnormality of visual evoked potentialsIntrauterine growth retardationCerebral cortical atrophyGeneralized hirsutismScoliosisKyphosisAbnormal retinal pigmentationHypoplasia of penisHydronephrosisRetinal colobomaSeizureAbnormal cerebellum morphologyCerebellar vermis hypoplasiaPeripheral neuropathyAbnormal localization of kidney
Classification & Codes
MeSH Code
C536681Orphanet Code
ORPHA:2510Warburg micro syndrome
| MeSH | C536681 |
| Orphanet | ORPHA:2510 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO