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autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0017804:  autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Orphanet:314572: 
UMLS:CN203767: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found