PYCR2-related microcephaly-progressive leukoencephalopathy
ORPHA: 481152
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 PYCR2-related microcephaly-progressive leukoencephalopathy, sourced from HPO and Orphanet clinical annotations.
Progressive microcephalyIntellectual disabilityAbsent speechFailure to thriveInability to walkSevere global developmental delayFeeding difficultiesHypoplasia of the maxillaLow-set earsProtruding earBulbous noseSeizureHypotoniaSpasticityAbnormal facial shapeVomitingHypoplasia of the corpus callosumDevelopmental regressionSkeletal muscle atrophyCNS hypomyelinationSevere demyelination of the white matterHyperintensity of cerebral white matter on MRIHigh palateThin vermilion borderHypertelorismSmooth philtrumTriangular faceNarrow foreheadLong philtrumHearing impairmentOverfolded helixMacrotiaAnteverted naresDownslanted palpebral fissuresEsotropiaUpslanted palpebral fissureNystagmusAggressive behaviorIrritabilityPectus carinatumAbnormality of the skeletal systemArachnodactylyAtaxiaAgenesis of corpus callosumGait disturbanceHyperreflexiaFlexion contractureJoint hypermobilityBilateral tonic-clonic seizureGlobal brain atrophyHypoplasia of the brainstemPoor speechLimb hypertoniaHip dislocationWrist hypermobilityThoracic kyphoscoliosisAnkle hypermobilityBroad halluxFocal myoclonic seizureBroad eyebrowBroad thumbCerebral visual impairment
Classification & Codes
Orphanet Code
ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy
| Orphanet | ORPHA:481152 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO