{"id":"W2083911620","doi":"10.1002/ajmg.a.33003","title":"Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"","keywords":"Dysarthria; Brachydactyly; Spastic; Medicine; Spasticity; Physical medicine and rehabilitation; Paraplegia; Psychology; Pediatrics; Audiology; Cerebral palsy; Spinal cord; Psychiatry; Short stature","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":[0.0001123624,0.001636044,0.0003825216,0.001365134,0.0006907508,0.0004116362,0.0002941929,0.0008543468,0.002741802],"category_scores_gemma":[0.000798176,0.0003076621,0.0002370245,0.0005713154,0.0008622868,0.0004931443,0.0006147259,0.0004982494,0.0003722626],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003709325,"about_ca_system_score_gemma":0.0003981472,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003468309,"about_ca_topic_score_gemma":0.005042334,"domain_scores_codex":[0.9998636,0.00001359747,0.00001855119,0.00002640732,0.00003446129,0.00004330038],"domain_scores_gemma":[0.9997253,0.00007477205,0.00008432406,0.000009218348,0.00001564367,0.00009067156],"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":[0.0001224367,0.00004519888,0.08186431,0.00005562108,0.00003914417,0.9033482,0.0004460816,0.0001358968,0.007393342,0.0003203108,0.0006006559,0.005628746],"study_design_scores_gemma":[0.00001579126,0.0001005233,0.05412265,0.00001413454,0.00001995702,0.9436569,0.0001628687,0.0001052499,0.0009771957,0.0001534054,0.0006609213,0.00001047149],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944668,0.0006575578,0.0005001053,0.0002793294,0.00002718622,0.00002084157,0.0001366999,0.00004078687,0.003870591],"genre_scores_gemma":[0.9984274,0.0002983808,0.0002475353,0.00008768731,0.00003709782,0.000005881046,0.00006437263,0.000006445762,0.0008251901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003468309,"threshold_uncertainty_score":0.009172261,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01437641814192115,"score_gpt":0.3252559021008631,"score_spread":0.3108794839589419,"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."}}