{"id":"W2170813193","doi":"10.1002/ajmg.1385","title":"Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple caf�-au-lait spots: New acrocraniofacial dysostosis syndrome?","year":2001,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Craniofacial Disorders and Treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Syndactyly; Dysostosis; Medicine; Anatomy; Atrioventricular Septal Defect; Congenital disease; Surgery; Internal medicine; Heart disease","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":[0.0001056378,0.001163148,0.0005417774,0.0009944158,0.0008273716,0.0005820548,0.0002359616,0.0009894464,0.002685911],"category_scores_gemma":[0.0007718333,0.0003311937,0.0003389496,0.0006594939,0.0009843089,0.0004784762,0.0006164326,0.0006680457,0.0003602607],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003088179,"about_ca_system_score_gemma":0.0003857632,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001134986,"about_ca_topic_score_gemma":0.002560249,"domain_scores_codex":[0.9997315,0.00002427235,0.00002468037,0.0001062381,0.00006192159,0.00005134454],"domain_scores_gemma":[0.999569,0.0001301365,0.0001407725,0.00002495909,0.00001602426,0.0001191957],"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":[0.0001619872,0.00006547372,0.04742861,0.00006353203,0.00005236899,0.9162235,0.0003735743,0.0001302439,0.02264978,0.0005775336,0.0004248957,0.01184858],"study_design_scores_gemma":[0.000019483,0.00008108508,0.02307638,0.000006115054,0.00003483294,0.9732346,0.0001056154,0.0001401516,0.002217224,0.0001761436,0.0008968391,0.00001153188],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920245,0.001138815,0.001012695,0.000707056,0.00005748481,0.00003053598,0.0002122232,0.0000505627,0.004766113],"genre_scores_gemma":[0.9970299,0.0005622347,0.001049996,0.0001464643,0.0000875847,0.00001121009,0.00007027783,0.000008356016,0.001033901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002685911,"threshold_uncertainty_score":0.008985221,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004093407696661177,"score_gpt":0.2315031734458253,"score_spread":0.2274097657491642,"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."}}