{"query":"child with recurrent seizures, intellectual disability, ataxia","kind":"text","recognisedAs":"Clinical semantic query","results":[{"kind":"gene","id":"SCN1A","route":"/gene/SCN1A/","label":"SCN1A","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"SCN2A","route":"/gene/SCN2A/","label":"SCN2A","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"KCNQ2","route":"/gene/KCNQ2/","label":"KCNQ2","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"PLA2G6","route":"/gene/PLA2G6/","label":"PLA2G6","description":"98% match · Intellectual disability, Seizure, Ataxia · Saudi founder allele","source":"ECP Clinical AI"},{"kind":"gene","id":"SLC2A1","route":"/gene/SLC2A1/","label":"SLC2A1","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"CDKL5","route":"/gene/CDKL5/","label":"CDKL5","description":"81% match · Intellectual disability, Seizure","source":"ECP Clinical AI"},{"kind":"phenotype","id":"HP:0001249","route":"/phenotype/HP%3A0001249/","label":"Intellectual disability","description":"HP:0001249 · 85% match · Nervous system","source":"Human Phenotype Ontology"},{"kind":"phenotype","id":"HP:0001250","route":"/phenotype/HP%3A0001250/","label":"Seizure","description":"HP:0001250 · 81% match · Nervous system","source":"Human Phenotype Ontology"},{"kind":"phenotype","id":"HP:0001251","route":"/phenotype/HP%3A0001251/","label":"Ataxia","description":"HP:0001251 · 65% match · Nervous system","source":"Human Phenotype Ontology"}],"semantic":{"query":"child with recurrent seizures, intellectual disability, ataxia","isNaturalLanguage":true,"matchedPhenotypes":[{"id":"HP:0001249","label":"Intellectual disability","similarity":0.853,"matchedTokens":["Intellectual disability","intellectual disability","intellectual","disability"],"category":"Nervous system","definition":"Significantly subaverage general intellectual functioning associated with concurrent impairments in adaptive behavior.","route":"/phenotype/HP%3A0001249/"},{"id":"HP:0001250","label":"Seizure","similarity":0.812,"matchedTokens":["Seizure","seizures","recurrent seizures"],"category":"Nervous system","definition":"A paroxysmal event of motor, sensory, autonomic, or cognitive dysfunction caused by excessive cortical neuronal discharge.","route":"/phenotype/HP%3A0001250/"},{"id":"HP:0001251","label":"Ataxia","similarity":0.648,"matchedTokens":["Ataxia","ataxia"],"category":"Nervous system","definition":"Failure of muscular coordination; irregularity of muscular action, typically from cerebellar or spinocerebellar pathway dysfunction.","route":"/phenotype/HP%3A0001251/"}],"candidateGenes":[{"symbol":"SCN1A","geneId":"ENSG00000144285","score":0.98,"matchedPhenotypes":["Intellectual disability","Seizure","Ataxia"],"omimDiseases":["Dravet syndrome (OMIM:607208)","Familial febrile seizures 3A (OMIM:604403)","Developmental and epileptic encephalopathy 6B"],"inheritance":"Autosomal dominant / De novo","founderEnriched":false,"reasoning":"Sodium voltage-gated channel alpha subunit 1; accounts for 3 of 3 identified phenotypes (Intellectual disability, Seizure, Ataxia). Associated with Dravet syndrome (OMIM:607208).","route":"/gene/SCN1A/"},{"symbol":"SCN2A","geneId":"ENSG00000136531","score":0.98,"matchedPhenotypes":["Intellectual disability","Seizure","Ataxia"],"omimDiseases":["Developmental and epileptic encephalopathy 11 (OMIM:613721)","Benign familial neonatal-infantile seizures 5 (OMIM:607745)"],"inheritance":"Autosomal dominant / De novo","founderEnriched":false,"reasoning":"Sodium voltage-gated channel alpha subunit 2; accounts for 3 of 3 identified phenotypes (Intellectual disability, Seizure, Ataxia). Associated with Developmental and epileptic encephalopathy 11 (OMIM:613721).","route":"/gene/SCN2A/"},{"symbol":"KCNQ2","geneId":"ENSG00000075043","score":0.98,"matchedPhenotypes":["Intellectual disability","Seizure","Ataxia"],"omimDiseases":["Developmental and epileptic encephalopathy 7 (OMIM:608831)","Benign familial neonatal seizures 1 (OMIM:121200)"],"inheritance":"Autosomal dominant / De novo","founderEnriched":false,"reasoning":"Potassium voltage-gated channel subfamily Q member 2; accounts for 3 of 3 identified phenotypes (Intellectual disability, Seizure, Ataxia). Associated with Developmental and epileptic encephalopathy 7 (OMIM:608831).","route":"/gene/KCNQ2/"},{"symbol":"PLA2G6","geneId":"ENSG00000184381","score":0.98,"matchedPhenotypes":["Intellectual disability","Seizure","Ataxia"],"omimDiseases":["Infantile neuroaxonal dystrophy 1 (INAD1, OMIM:256600)","Parkinson disease 14 (OMIM:612953)"],"inheritance":"Autosomal recessive","founderEnriched":true,"founderAlleleNote":"High-prevalence Saudi founder allele c.2221C>T (p.Arg741Trp). Enriched in regional cohorts with infantile onset neuroaxonal dystrophy.","reasoning":"Phospholipase A2 group VI; accounts for 3 of 3 identified phenotypes (Intellectual disability, Seizure, Ataxia). Associated with Infantile neuroaxonal dystrophy 1 (INAD1, OMIM:256600). High-prevalence Saudi founder allele c.2221C>T (p.Arg741Trp). Enriched in regional cohorts with infantile onset neuroaxonal dystrophy.","route":"/gene/PLA2G6/"},{"symbol":"SLC2A1","geneId":"ENSG00000117394","score":0.98,"matchedPhenotypes":["Intellectual disability","Seizure","Ataxia"],"omimDiseases":["GLUT1 deficiency syndrome 1 (OMIM:606777)","Dystonia 9 (OMIM:601042)"],"inheritance":"Autosomal dominant / Autosomal recessive","founderEnriched":false,"reasoning":"Solute carrier family 2 member 1 (GLUT1); accounts for 3 of 3 identified phenotypes (Intellectual disability, Seizure, Ataxia). Associated with GLUT1 deficiency syndrome 1 (OMIM:606777).","route":"/gene/SLC2A1/"},{"symbol":"CDKL5","geneId":"ENSG00000008018","score":0.805,"matchedPhenotypes":["Intellectual disability","Seizure"],"omimDiseases":["Developmental and epileptic encephalopathy 2 (OMIM:300672)","Early infantile epileptic encephalopathy"],"inheritance":"X-linked dominant","founderEnriched":false,"reasoning":"Cyclin-dependent kinase-like 5; accounts for 2 of 3 identified phenotypes (Intellectual disability, Seizure). Associated with Developmental and epileptic encephalopathy 2 (OMIM:300672).","route":"/gene/CDKL5/"}],"clinicalReasoning":"Clinical NLP resolved 3 clinical features: Intellectual disability (HP:0001249), Seizure (HP:0001250), Ataxia (HP:0001251). Semantic phenotype-to-gene prioritization highlights SCN1A, SCN2A, KCNQ2, PLA2G6 based on syndromic convergence and OMIM disease co-occurrence.","suggestedTargets":[{"kind":"gene","id":"SCN1A","route":"/gene/SCN1A/","label":"SCN1A","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"SCN2A","route":"/gene/SCN2A/","label":"SCN2A","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"KCNQ2","route":"/gene/KCNQ2/","label":"KCNQ2","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"PLA2G6","route":"/gene/PLA2G6/","label":"PLA2G6","description":"98% match · Intellectual disability, Seizure, Ataxia · Saudi founder allele","source":"ECP Clinical AI"},{"kind":"gene","id":"SLC2A1","route":"/gene/SLC2A1/","label":"SLC2A1","description":"98% match · Intellectual disability, Seizure, Ataxia","source":"ECP Clinical AI"},{"kind":"gene","id":"CDKL5","route":"/gene/CDKL5/","label":"CDKL5","description":"81% match · Intellectual disability, Seizure","source":"ECP Clinical AI"},{"kind":"phenotype","id":"HP:0001249","route":"/phenotype/HP%3A0001249/","label":"Intellectual disability","description":"HP:0001249 · 85% match · Nervous system","source":"Human Phenotype Ontology"},{"kind":"phenotype","id":"HP:0001250","route":"/phenotype/HP%3A0001250/","label":"Seizure","description":"HP:0001250 · 81% match · Nervous system","source":"Human Phenotype Ontology"},{"kind":"phenotype","id":"HP:0001251","route":"/phenotype/HP%3A0001251/","label":"Ataxia","description":"HP:0001251 · 65% match · Nervous system","source":"Human Phenotype Ontology"}]}}