{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002774101,0.0002987518,0.000661547,0.000158534,0.0001169057,0.00003512265,0.00029435,0.0002486582,0.00004994002],"category_scores_gemma":[0.0003097498,0.0002649637,0.0004198838,0.0003329217,0.0003794781,0.00000887208,0.0002008273,0.0002692848,0.000002285167],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004395307,"about_ca_system_score_gemma":0.0003953329,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003332693,"about_ca_topic_score_gemma":0.0001039253,"domain_scores_codex":[0.9979029,0.00009592922,0.0006390933,0.0003531638,0.000548011,0.0004608716],"domain_scores_gemma":[0.9984669,0.00008022205,0.0004427691,0.0001826897,0.0001237262,0.000703687],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001776237,0.001288214,0.6483967,0.00009777751,0.002449973,0.003030272,0.0005355108,0.00008032113,0.006623828,0.00001065854,0.001208324,0.3345022],"study_design_scores_gemma":[0.09036287,0.04407113,0.4495697,0.0009300831,0.006107649,0.2105459,0.005399183,0.001322906,0.01646728,0.000274698,0.170585,0.00436363],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9878875,0.01025871,0.00121374,0.000269515,0.0001188201,0.0001519912,0.0000628737,0.000004549016,0.00003232215],"genre_scores_gemma":[0.9836522,0.0150879,0.0007675152,0.0001902686,0.0001769779,0.000001004645,0.00002086842,0.00003487232,0.00006839514],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3301385,"threshold_uncertainty_score":0.9999803,"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."}}