{"Name":"Pachygyria-intellectual disability-epilepsy syndrome","DiseaseID__c":"GARD:0000409","id":409,"encodedName":"pachygyria-intellectual-disability-epilepsy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pachygyria-intellectual disability-epilepsy syndrome","Xref_IDs__c":"763861000; C1838491; C538091; MEDGEN:333107; MONDO:0010840; OMIM:600176; ORPHA:2798","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010840","Disease_Description__c":"A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.","GARD_Name__c":"Pachygyria-intellectual disability-epilepsy syndrome","GARD_Synonym__c":"kuzniecky syndrome; pachygyria with impaired intellectual development, seizures, and arachnoid cysts; pachygyria, intellectual disability, epilepsy syndrome","Curated_Disease_Description_Source__c":"MONDO:0010840","Curated_Disease_Description__c":"A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2798","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010840","ORPHANET_ID__c":"ORPHA:2798","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de paquigiria-discapacidad intelectual-epilepsia","Spanish_Description_Source__c":"ORPHA:2798","Spanish_Description__c":"Es un trastorno neurológico genético poco frecuente caracterizado por la presencia de paquigiria difusa y quistes aracnoideos, retraso del desarrollo psicomotor y discapacidad intelectual. También se asocian crisis (que pueden ser de ausencias, atónicas y tónico-clónicas generalizadas) y, en ocasiones, cefalea.","Spanish_Disease_Name__c":"síndrome de paquigiria-discapacidad intelectual-epilepsia","Spanish_GARD_Synonym__c":"síndrome de kuzniecky","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, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.","Curated_Disease_Description_Source__c":"MONDO:0010840","GARD_Synonym__c":"kuzniecky syndrome; pachygyria with impaired intellectual development, seizures, and arachnoid cysts; pachygyria, intellectual disability, epilepsy syndrome","Name":"Pachygyria-intellectual disability-epilepsy syndrome","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":"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":"Childhood","Provided_By__c":"ORPHA:2798"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/600176","Source__c":"C1838491; MONDO:0010840; ORPHA:2798","Xref__c":"OMIM:600176"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763861000","Source__c":"C1838491; MONDO:0010840","Xref__c":"763861000"},{"URL__c":"https://www.orpha.net/en/disease/detail/2798","Source__c":"C1838491; MONDO:0010840; ORPHA:2798","Xref__c":"ORPHA:2798"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333107","Source__c":"C1838491","Xref__c":"MEDGEN:333107"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538091","Source__c":"MONDO:0010840","Xref__c":"C538091"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838491","Source__c":"C1838491","Xref__c":"C1838491"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010840","Source__c":"GARD:0000409","Xref__c":"MONDO:0010840"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2798","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2798","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2798","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2798","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["kuzniecky syndrome"," pachygyria with impaired intellectual development, seizures, and arachnoid cysts"," pachygyria, intellectual disability, epilepsy syndrome"]}