{"Name":"Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders","DiseaseID__c":"GARD:0016748","id":16748,"encodedName":"epilepsy-x-linked-1-with-variable-learning-disabilities-and-behavior-disorders","IsDeleted":false,"Disease_Name_Full__c":"Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders","Xref_IDs__c":"C564505; C5774177; DOID:0112122; MEDGEN:1823951; MONDO:0010339; OMIM:300491; ORPHA:85294","USA_Estimate__c":null,"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":null,"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":1,"Description_Source__c":"MONDO:0010339","Disease_Description__c":"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).","GARD_Name__c":"Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders","GARD_Synonym__c":"epilepsy, x-linked, with variable learning disabilities and behavior disorders, x-linked recessive, x-linked dominant; epilepsy, x-linked, with variable learning disabilities and behaviour disorders, x-linked recessive, x-linked dominant; x-linked epilepsy-learning disabilities-behavior disorders syndrome","Curated_Disease_Description_Source__c":"ORPHA:85294","Curated_Disease_Description__c":"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85294","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010339","ORPHANET_ID__c":"ORPHA:85294","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de epilepsia ligada al cromosoma x-problemas de aprendizaje-trastornos conductuales","Spanish_Description_Source__c":"ORPHA:85294","Spanish_Description__c":"Es un síndrome caracterizado por epilepsia, dificultades de aprendizaje, macrocefalia y conducta agresiva. Se ha descrito en varones de una familia de cuatro generaciones. Se transmite como un rasgo recesivo ligado al cromosoma X y es probable que esté causado por mutaciones en el gen que codifica la sinapsina I (Xp11.3-q12).","Spanish_Disease_Name__c":"síndrome de epilepsia ligada al cromosoma x-problemas de aprendizaje-trastornos conductuales","Spanish_GARD_Synonym__c":null,"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":"X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).","Curated_Disease_Description_Source__c":"ORPHA:85294","GARD_Synonym__c":"epilepsy, x-linked, with variable learning disabilities and behavior disorders, x-linked recessive, x-linked dominant; epilepsy, x-linked, with variable learning disabilities and behaviour disorders, x-linked recessive, x-linked dominant; x-linked epilepsy-learning disabilities-behavior disorders syndrome","Name":"Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders","estimateUsa":""}],"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":"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:85294"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5774177","Source__c":"C5774177","Xref__c":"C5774177"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1823951","Source__c":"C5774177","Xref__c":"MEDGEN:1823951"},{"URL__c":"https://www.orpha.net/en/disease/detail/85294","Source__c":"C5774177; MONDO:0010339","Xref__c":"ORPHA:85294"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112122","Source__c":"MONDO:0010339","Xref__c":"DOID:0112122"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564505","Source__c":"MONDO:0010339","Xref__c":"C564505"},{"URL__c":"https://www.omim.org/entry/300491","Source__c":"C5774177; MONDO:0010339; ORPHA:85294","Xref__c":"OMIM:300491"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010339","Source__c":"GARD:0016748","Xref__c":"MONDO:0010339"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SYN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85294","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85294","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000718","HPO_Synonym__c":"Aggression; Aggressive behavior; Aggressiveness","HPO_Name__c":"Aggressive behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85294","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85294","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["epilepsy, x-linked, with variable learning disabilities and behavior disorders, x-linked recessive, x-linked dominant"," epilepsy, x-linked, with variable learning disabilities and behaviour disorders, x-linked recessive, x-linked dominant"," x-linked epilepsy-learning disabilities-behavior disorders syndrome"]}