{"Name":"Cobblestone lissencephaly","DiseaseID__c":"GARD:0003277","id":3277,"encodedName":"cobblestone-lissencephaly","IsDeleted":false,"Disease_Name_Full__c":"Cobblestone lissencephaly","Xref_IDs__c":"253149002; C0431376; D054222; MEDGEN:96562; MONDO:0018869; ORPHA:51577","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018869","Disease_Description__c":"A rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.","GARD_Name__c":"Cobblestone lissencephaly","GARD_Synonym__c":"lissencephaly type 2; lissencephaly type ii; type 2 lissencephaly; type ii lissencephaly","Curated_Disease_Description_Source__c":"GARD:0003277","Curated_Disease_Description__c":"Cobblestone lissencephaly is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion. Genetic changes in the RELN gene have been identified in some affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:51577","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018869","ORPHANET_ID__c":"ORPHA:51577","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia en empedrado","Spanish_Description_Source__c":"ORPHA:51577","Spanish_Description__c":"Es una malformación poco frecuente del sistema nervioso central que comprende un grupo de enfermedades caracterizadas por una apariencia granular (o en empedrado) de la corteza cerebral, asociada a engrosamiento cortical, reducción de la sulcación normal, ventriculomegalia y sustancia blanca reducida y anómala, así como hipoplasia del tronco encefálico y del cerebelo, y agenesia del cuerpo calloso. Por lo general, los pacientes presentan un grado variable de retraso del desarrollo psicomotor, hipotonía y anomalías oculares, aunque la afectación muscular y ocular puede estar ausente.","Spanish_Disease_Name__c":"lisencefalia en empedrado","Spanish_GARD_Synonym__c":"lisencefalia tipo 2","Category_Linearization__c":"ORPHA:93890","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":"Cobblestone lissencephaly is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion. Genetic changes in the RELN gene have been identified in some affected individuals.","Curated_Disease_Description_Source__c":"GARD:0003277","GARD_Synonym__c":"lissencephaly type 2; lissencephaly type ii; type 2 lissencephaly; type ii lissencephaly","Name":"Cobblestone lissencephaly","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.org/"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:51577"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:51577"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796089"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431376","Source__c":"C0431376","Xref__c":"C0431376"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96562","Source__c":"C0431376","Xref__c":"MEDGEN:96562"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054222","Source__c":"C0431376; MONDO:0018869","Xref__c":"D054222"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253149002","Source__c":"C0431376; MONDO:0018869","Xref__c":"253149002"},{"URL__c":"https://www.orpha.net/en/disease/detail/51577","Source__c":"C0431376; MONDO:0018869; ORPHA:51577","Xref__c":"ORPHA:51577"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007260","Source__c":"C0431376","Xref__c":"HP:0007260"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018869","Source__c":"GARD:0003277","Xref__c":"MONDO:0018869"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["lissencephaly type 2"," lissencephaly type ii"," type 2 lissencephaly"," type ii lissencephaly"]}