syndromic disease hereditary disease autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/autosomal_recessive_leukoencephalopathy_ischemic_stroke_retinitis_pigmentosa_syndrome MEDGEN:1654941 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. Orphanet:314572 GARD:0021378 UMLS:C4749919 MONDO:0017804