autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
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:0002254
syndromic disease
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MONDO:0003847
hereditary disease
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