{"Name":"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome","DiseaseID__c":"GARD:0021378","id":21378,"encodedName":"autosomal-recessive-leukoencephalopathy-ischemic-stroke-retinitis-pigmentosa-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome","Xref_IDs__c":"C4749919; MEDGEN:1654941; MONDO:0017804; ORPHA:314572","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017804","Disease_Description__c":"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.","GARD_Name__c":"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome","GARD_Synonym__c":"autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome","Curated_Disease_Description_Source__c":"MONDO:0017804","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:314572","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017804","ORPHANET_ID__c":"ORPHA:314572","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de leucoencefalopatía-ictus isquémico-retinosis pigmentaria autosómico recesivo","Spanish_Description_Source__c":"ORPHA:314572","Spanish_Description__c":"Es una enfermedad neurológica poco frecuente caracterizada por retraso global del desarrollo, discapacidad intelectual, múltiples lesiones isquémicas en las imágenes de resonancia magnética cerebral, anomalías conductuales, distonía, movimientos coreicos y síndrome piramidal, dismorfia facial (hipertelorismo, paladar ojival, macroglosia), retinosis pigmentaria, escoliosis y crisis epilépticas.","Spanish_Disease_Name__c":"síndrome de leucoencefalopatía-ictus isquémico-retinosis pigmentaria autosómico recesivo","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0017804","GARD_Synonym__c":"autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome","Name":"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syn","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:314572"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314572"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/314572","Source__c":"C4749919; MONDO:0017804; ORPHA:314572","Xref__c":"ORPHA:314572"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1654941","Source__c":"C4749919","Xref__c":"MEDGEN:1654941"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749919","Source__c":"C4749919","Xref__c":"C4749919"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017804","Source__c":"GARD:0021378","Xref__c":"MONDO:0017804"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771476007","Source__c":"C4749919","Xref__c":"771476007"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome"]}