{"id":"W4386026333","doi":"10.1186/s13052-023-01488-7","title":"KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype","year":2023,"lang":"en","type":"article","venue":"The Italian Journal of Pediatrics/Italian journal of pediatrics","topic":"Hearing, Cochlea, Tinnitus, Genetics","field":"Neuroscience","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Hospital Foundation","funders":"","keywords":"Cerebellar hypoplasia (non-human); Medicine; Intellectual disability; Psychosocial; Etiology; Autism spectrum disorder; Microcephaly; Autism; Hypoplasia; Cognition; Pediatrics; Neuroscience; Cerebellum; Psychiatry; Psychology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000437675,0.001986751,0.001187169,0.002575429,0.001804423,0.001570371,0.001017847,0.004115978,0.002703513],"category_scores_gemma":[0.001828976,0.001115474,0.00107009,0.001128135,0.001957295,0.001630387,0.001982048,0.002720736,0.001078136],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009586092,"about_ca_system_score_gemma":0.000855151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002188516,"about_ca_topic_score_gemma":0.002580135,"domain_scores_codex":[0.9992549,0.00006498728,0.00009598317,0.000255868,0.0001014194,0.0002268573],"domain_scores_gemma":[0.998744,0.0003278792,0.0002576198,0.0001740648,0.0001072645,0.0003891145],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00001813088,0.00003033946,0.003694458,0.00002527876,0.000007027831,0.9930062,0.0001391766,0.00003541972,0.001487061,0.000101919,0.0002053559,0.001249642],"study_design_scores_gemma":[0.000004568943,0.00001828159,0.001653473,0.000006644888,0.000005902724,0.9976811,0.00004070111,0.000058593,0.0002169065,0.00004821434,0.000260519,0.000005104408],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9782394,0.006324844,0.005033794,0.002018827,0.000343074,0.0002254573,0.0003423944,0.0002109198,0.007261304],"genre_scores_gemma":[0.9910006,0.002317158,0.003928145,0.000559632,0.0007553308,0.00003988515,0.0001544344,0.00004144624,0.001203331],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004115978,"threshold_uncertainty_score":0.00904417,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05825149910817835,"score_gpt":0.3330463686470734,"score_spread":0.2747948695388951,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}