{"id":"W1932504966","doi":"10.1002/ajmg.a.37369","title":"Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of General Medical Sciences; National Cancer Institute","keywords":"Hypotonia; Hypertelorism; Epilepsy; Pediatrics; Medicine; Intellectual disability; Global developmental delay; Exome sequencing; Muscle Hypotonia; Compound heterozygosity; Camptodactyly; Mutation; Genetics; Phenotype; Anatomy; Biology; Psychiatry","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":[0.0002480491,0.0006162746,0.0003671691,0.0009002038,0.0003408017,0.0002562518,0.0001711198,0.0004675125,0.00306342],"category_scores_gemma":[0.001146093,0.0001844997,0.0002169454,0.000351989,0.0003824428,0.0001620549,0.0002914306,0.0002311714,0.0002682705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001884325,"about_ca_system_score_gemma":0.0001513317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009516263,"about_ca_topic_score_gemma":0.0009610297,"domain_scores_codex":[0.9996804,0.00007002292,0.00004900945,0.0001037671,0.00005308401,0.00004377462],"domain_scores_gemma":[0.9993615,0.000300767,0.0001746821,0.00004192382,0.00004267598,0.00007850961],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001039751,0.0002416455,0.7850643,0.00007904514,0.0002104667,0.1040423,0.0009954252,0.0007432927,0.08557466,0.0005173851,0.0009952509,0.02049651],"study_design_scores_gemma":[0.00009605167,0.0005009375,0.8211194,0.00002482159,0.0001267929,0.1631251,0.0002517856,0.001046684,0.01135962,0.0003127104,0.001998765,0.00003739994],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989766,0.00008643244,0.0001595398,0.00003352332,0.000005009408,0.000005505159,0.000113407,0.000008656479,0.000611375],"genre_scores_gemma":[0.9992597,0.00005416351,0.000181645,0.00003439741,0.00001052689,0.000006786169,0.0001990992,0.000006246253,0.0002475707],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00306342,"threshold_uncertainty_score":0.01024812,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01175492463676665,"score_gpt":0.2425288363143153,"score_spread":0.2307739116775487,"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."}}