Disease & disorder
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
MONDO:0017804
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Background context
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.