{"query":"global developmental delay","kind":"text","recognisedAs":"Clinical semantic query","results":[{"kind":"gene","id":"CDKL5","route":"/gene/CDKL5/","label":"CDKL5","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"SCN1A","route":"/gene/SCN1A/","label":"SCN1A","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"SCN2A","route":"/gene/SCN2A/","label":"SCN2A","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"KCNQ2","route":"/gene/KCNQ2/","label":"KCNQ2","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"MECP2","route":"/gene/MECP2/","label":"MECP2","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"SLC2A1","route":"/gene/SLC2A1/","label":"SLC2A1","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"phenotype","id":"HP:0001263","route":"/phenotype/HP%3A0001263/","label":"Global developmental delay","description":"HP:0001263 · 99% match · Nervous system","source":"Human Phenotype Ontology"}],"semantic":{"query":"global developmental delay","isNaturalLanguage":true,"matchedPhenotypes":[{"id":"HP:0001263","label":"Global developmental delay","similarity":0.99,"matchedTokens":["Global developmental delay","developmental delay","global developmental delay","global","developmental","delay"],"category":"Nervous system","definition":"A delay in the achievement of motor, cognitive, speech, or social developmental milestones across multiple domains in children under five.","route":"/phenotype/HP%3A0001263/"}],"candidateGenes":[{"symbol":"CDKL5","geneId":"ENSG00000008018","score":0.98,"matchedPhenotypes":["Global developmental delay"],"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 1 of 1 identified phenotype (Global developmental delay). Associated with Developmental and epileptic encephalopathy 2 (OMIM:300672).","route":"/gene/CDKL5/"},{"symbol":"SCN1A","geneId":"ENSG00000144285","score":0.98,"matchedPhenotypes":["Global developmental delay"],"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 1 of 1 identified phenotype (Global developmental delay). Associated with Dravet syndrome (OMIM:607208).","route":"/gene/SCN1A/"},{"symbol":"SCN2A","geneId":"ENSG00000136531","score":0.98,"matchedPhenotypes":["Global developmental delay"],"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 1 of 1 identified phenotype (Global developmental delay). Associated with Developmental and epileptic encephalopathy 11 (OMIM:613721).","route":"/gene/SCN2A/"},{"symbol":"KCNQ2","geneId":"ENSG00000075043","score":0.98,"matchedPhenotypes":["Global developmental delay"],"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 1 of 1 identified phenotype (Global developmental delay). Associated with Developmental and epileptic encephalopathy 7 (OMIM:608831).","route":"/gene/KCNQ2/"},{"symbol":"MECP2","geneId":"ENSG00000169057","score":0.98,"matchedPhenotypes":["Global developmental delay"],"omimDiseases":["Rett syndrome (OMIM:312750)","Encephalopathy neonatal severe (OMIM:300673)"],"inheritance":"X-linked dominant","founderEnriched":false,"reasoning":"Methyl-CpG binding protein 2; accounts for 1 of 1 identified phenotype (Global developmental delay). Associated with Rett syndrome (OMIM:312750).","route":"/gene/MECP2/"},{"symbol":"SLC2A1","geneId":"ENSG00000117394","score":0.98,"matchedPhenotypes":["Global developmental delay"],"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 1 of 1 identified phenotype (Global developmental delay). Associated with GLUT1 deficiency syndrome 1 (OMIM:606777).","route":"/gene/SLC2A1/"}],"clinicalReasoning":"Clinical NLP resolved 1 clinical feature: Global developmental delay (HP:0001263). Semantic phenotype-to-gene prioritization highlights CDKL5, SCN1A, SCN2A, KCNQ2 based on syndromic convergence and OMIM disease co-occurrence.","suggestedTargets":[{"kind":"gene","id":"CDKL5","route":"/gene/CDKL5/","label":"CDKL5","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"SCN1A","route":"/gene/SCN1A/","label":"SCN1A","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"SCN2A","route":"/gene/SCN2A/","label":"SCN2A","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"KCNQ2","route":"/gene/KCNQ2/","label":"KCNQ2","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"MECP2","route":"/gene/MECP2/","label":"MECP2","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"gene","id":"SLC2A1","route":"/gene/SLC2A1/","label":"SLC2A1","description":"98% match · Global developmental delay","source":"ECP Clinical AI"},{"kind":"phenotype","id":"HP:0001263","route":"/phenotype/HP%3A0001263/","label":"Global developmental delay","description":"HP:0001263 · 99% match · Nervous system","source":"Human Phenotype Ontology"}]}}