{ "title": "ASH1L Human Phenotype Matrix", "scope": "Source-traceable extraction of human-bearing publications in the ASH1L.org Evidence Library. The matrix publishes only denominators supported by the named source locator; it is not a pooled prevalence estimate or a complete syndrome checklist.", "denominatorRule": "positiveN is bounded by assessedN, which is bounded by eligibleN and studyN. Null means not reported or not extractable. Zero is used only for an explicitly assessed negative result.", "missingnessVocabulary": [ "Feature reported selectively", "All eligible participants accounted for", "Feature assessed systematically", "Eligible participants are missing", "Only a tested subset of participants is reported", "Only an assessed subset of participants is reported" ], "studies": [ { "citation": "Okamoto et al. 2017 · doi:10.1002/ajmg.a.38193", "publicationStatus": "Peer reviewed", "studyDesign": "case report", "populationContext": "Rare-variant neurodevelopmental disorder", "ascertainment": "Clinical case identified for multiple congenital anomalies and intellectual disability.", "studyN": 1, "eligibleASH1LN": 1, "familiesN": 1, "age": "Age not stated in the PubMed abstract used for this extraction.", "sex": "Not extracted from the primary abstract.", "molecularClass": "Missense", "molecularSummary": "Heterozygous ASH1L missense variant reported in the case literature.", "overlapRisk": "This individual is repeated in later literature-synthesis tables; do not count the synthesis as a new participant.", "limitations": "Single case; this matrix includes only features explicit in the primary PubMed abstract.", "studyNumber": 1, "evidenceLibrarySourceNumber": 41 }, { "citation": "Shen et al. 2019 · doi:10.1016/j.ejmg.2018.05.003", "publicationStatus": "Peer reviewed", "studyDesign": "case report", "populationContext": "Rare-variant neurodevelopmental disorder", "ascertainment": "Clinical case with multiple congenital anomalies and neurodevelopmental features.", "studyN": 1, "eligibleASH1LN": 1, "familiesN": 1, "age": "Age not stated in the PubMed abstract used for this extraction.", "sex": "Not extracted from the primary abstract.", "molecularClass": "LoF / truncating", "molecularSummary": "De novo frameshift loss-of-function variant.", "overlapRisk": "The case is repeated in later literature-synthesis tables; retain the primary report as the participant source.", "limitations": "Single case; feature extraction is limited to statements explicit in the primary PubMed abstract.", "studyNumber": 2, "evidenceLibrarySourceNumber": 34 }, { "citation": "Liu et al. 2021 · doi:10.1016/j.jocn.2021.06.038", "publicationStatus": "Peer reviewed", "studyDesign": "family study", "populationContext": "Rare-variant neurodevelopmental disorder", "ascertainment": "Monozygotic twin sisters evaluated after seizures and intellectual disability.", "studyN": 2, "eligibleASH1LN": 2, "familiesN": 1, "age": "Age not stated in the PubMed abstract used for this extraction.", "sex": "2 female", "molecularClass": "LoF / truncating", "molecularSummary": "Shared de novo heterozygous nonsense loss-of-function variant.", "overlapRisk": "Two people, one family, and one independent allele event. Later literature tables repeat both individuals.", "limitations": "Related participants are not independent recurrence events; only abstract-explicit features are extracted here.", "studyNumber": 3, "evidenceLibrarySourceNumber": 32 }, { "citation": "Cordova et al. 2024 · doi:10.3390/genes15040423", "publicationStatus": "Peer reviewed", "studyDesign": "case series", "populationContext": "Rare-variant neurodevelopmental disorder", "ascertainment": "Three Brain Gene Registry / GenomeConnect participants with presumed loss-of-function variants and no other likely pathogenic explanation.", "studyN": 3, "eligibleASH1LN": 3, "familiesN": 3, "age": "8, 14, and 15 years", "sex": "3 male", "molecularClass": "LoF / truncating", "molecularSummary": "Two nonsense variants and one frameshift; two de novo and one inheritance unknown.", "overlapRisk": "One Brain Gene Registry participant appears again in the Papendorp 2025 supplement. The article's prior-literature totals are a synthesis, not a new cohort.", "limitations": "Small registry case series; feature denominators vary because NR is retained rather than treated as negative.", "studyNumber": 4, "evidenceLibrarySourceNumber": 12 }, { "citation": "Papendorp et al. 2025 · revised bioRxiv preprint · doi:10.1101/2025.02.21.639570", "publicationStatus": "Preprint", "studyDesign": "mixed human/model prospective cohort", "populationContext": "Rare-variant neurodevelopmental disorder", "ascertainment": "Self-referred and clinically ascertained participants evaluated with records, neurologic examination, neuropsychology, and EEG.", "studyN": 23, "eligibleASH1LN": 23, "familiesN": 22, "age": "3–32 years in the primary manuscript; one infant row appears in the public supplement.", "sex": "10 male; 13 female", "molecularClass": "Mixed", "molecularSummary": "24 variant observations: 2 splice, 8 frameshift, 8 nonsense, and 6 missense; one participant carried two missense variants.", "overlapRisk": "At least one participant overlaps Cordova 2024; the later AES N=26 abstract is likely an expanded overlapping cohort. Never sum these denominators.", "limitations": "Preprint and ascertained cohort. Epilepsy/EEG counts conflict between narrative text and the public supplement; conflicting cells are preserved and excluded from pooled quantitative use.", "studyNumber": 5, "evidenceLibrarySourceNumber": 9 }, { "citation": "Liao et al. 2025 · doi:10.3389/fneur.2025.1524532", "publicationStatus": "Peer reviewed", "studyDesign": "case report", "populationContext": "Rare-variant neurodevelopmental disorder", "ascertainment": "Adult proband evaluated for mild intellectual disability with family sequencing.", "studyN": 1, "eligibleASH1LN": 1, "familiesN": 1, "age": "23 years", "sex": "1 female", "molecularClass": "LoF / truncating", "molecularSummary": "Inherited heterozygous nonsense variant; the mother was described with similar symptoms.", "overlapRisk": "The article reviews prior variants; only the new index proband is counted here.", "limitations": "Single case with additional VUS findings. The literature review is excluded from the case denominator.", "studyNumber": 6, "evidenceLibrarySourceNumber": 8 }, { "citation": "Pulatov et al. 2025 · doi:10.1186/s13256-025-05675-4", "publicationStatus": "Peer reviewed", "studyDesign": "case report", "populationContext": "VUS comparator", "ascertainment": "Child referred for second opinion regarding autism and evaluated with neuropsychology and whole-genome sequencing.", "studyN": 1, "eligibleASH1LN": 1, "familiesN": 1, "age": "6 years", "sex": "1 male", "molecularClass": "Missense VUS", "molecularSummary": "De novo ASH1L missense finding remained a variant of uncertain significance.", "overlapRisk": "No known overlap identified.", "limitations": "VUS case with additional variants; it is displayed as a comparator and excluded from the direct pathogenic rare-variant summary.", "studyNumber": 7, "evidenceLibrarySourceNumber": 7 }, { "citation": "Liu et al. 2022 · doi:10.1002/brb3.2539", "publicationStatus": "Peer reviewed", "studyDesign": "family-based and case-control association", "populationContext": "Tourette susceptibility", "ascertainment": "Tourette syndrome association context using common variants.", "studyN": null, "eligibleASH1LN": null, "familiesN": null, "age": "Not extracted for this rare-variant phenotype matrix.", "sex": "Not extracted for this rare-variant phenotype matrix.", "molecularClass": "Common-variant association", "molecularSummary": "Common-variant risk context; not monogenic ASH1L-related NDD.", "overlapRisk": "Different condition and recruitment context.", "limitations": "Excluded from the rare pathogenic-variant phenotype matrix. Study N and phenotype cells are intentionally not repurposed.", "studyNumber": 8, "evidenceLibrarySourceNumber": 25 }, { "citation": "Liu et al. 2020 · doi:10.1038/s41380-019-0560-8", "publicationStatus": "Peer reviewed", "studyDesign": "human genetics with model follow-up", "populationContext": "Tourette susceptibility", "ascertainment": "Tourette syndrome susceptibility genetics and functional follow-up.", "studyN": null, "eligibleASH1LN": null, "familiesN": null, "age": "Not extracted for this rare-variant phenotype matrix.", "sex": "Not extracted for this rare-variant phenotype matrix.", "molecularClass": "Association and rare-variant context", "molecularSummary": "Tourette-susceptibility context; not a denominator for monogenic ASH1L-related NDD.", "overlapRisk": "Different condition and recruitment context.", "limitations": "Excluded from the rare pathogenic-variant phenotype matrix. Study N and phenotype cells are intentionally not repurposed.", "studyNumber": 9, "evidenceLibrarySourceNumber": 33 }, { "externalSourceId": "AES-2025-ABSTRACT-2.465", "citation": "Nie et al. 2025 · American Epilepsy Society abstract 2.465", "publicationStatus": "Conference abstract", "studyDesign": "prospective natural history", "populationContext": "Rare-variant neurodevelopmental disorder", "ascertainment": "Prospective natural-history cohort with pathogenic or likely pathogenic ASH1L variants.", "studyN": 26, "eligibleASH1LN": 26, "familiesN": 25, "age": "Not reported in the public abstract.", "sex": "12 male; 14 female", "molecularClass": "Mixed", "molecularSummary": "27 variant observations: 9 nonsense, 7 missense, 9 frameshift, and 2 splice; one participant carried two missense variants and a sibling pair shared one splice variant.", "overlapRisk": "Same research group and highly similar cohort architecture as Papendorp 2025; treat as an expanded overlapping cohort and never sum the two study Ns.", "limitations": "Conference abstract. Only the combined seizure and/or epileptiform-EEG endpoint has an extractable n/N; other phenotype descriptions are qualitative.", "studyNumber": 10, "evidenceLibrarySourceNumber": null } ], "phenotypeTerms": [ { "label": "Intellectual disability / developmental delay", "operationalDefinition": "Counts an explicit source report of intellectual disability and/or developmental delay; severity and assessment method remain source-specific.", "featureNumber": 1, "clinicalArea": "Development / language" }, { "label": "Autism spectrum disorder", "operationalDefinition": "Counts an explicit source report of autism spectrum disorder; diagnostic method and terminology remain source-specific.", "featureNumber": 2, "clinicalArea": "Behavior / sensory" }, { "label": "Motor delay", "operationalDefinition": "Counts an explicit source report of delayed gross-motor milestone acquisition; the milestone and assessment method remain source-specific.", "featureNumber": 3, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Speech or language delay", "operationalDefinition": "Counts an explicit source report of speech or language delay; expressive, receptive, and speech-motor findings remain distinct when the source distinguishes them.", "featureNumber": 4, "clinicalArea": "Development / language" }, { "label": "Feeding difficulty", "operationalDefinition": "Counts an explicit source report of feeding difficulty; age, mechanism, severity, and current versus historical status remain source-specific.", "featureNumber": 5, "clinicalArea": "Birth / feeding" }, { "label": "Seizure or epilepsy", "operationalDefinition": "Counts an explicit source report of seizure or epilepsy; clinical events, diagnostic classification, and EEG evidence remain distinct when available.", "featureNumber": 6, "clinicalArea": "Seizure / EEG / spells" }, { "label": "Obsessive behavior", "operationalDefinition": "Counts an explicit source report of obsessive or compulsive behavior; diagnostic status and descriptive behavior remain source-specific.", "featureNumber": 7, "clinicalArea": "Behavior / sensory" }, { "label": "ADHD or hyperactivity", "operationalDefinition": "Counts an explicit source report of ADHD or hyperactivity; formal diagnosis and descriptive behavior remain source-specific.", "featureNumber": 8, "clinicalArea": "Behavior / sensory" }, { "label": "Hypotonia", "operationalDefinition": "Counts an explicit source report of hypotonia; examination method, body distribution, and age at assessment remain source-specific.", "featureNumber": 9, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Genital malformation", "operationalDefinition": "Counts an explicit source report of a genital malformation; anatomy and diagnostic method remain source-specific.", "featureNumber": 10, "clinicalArea": "Growth / endocrine / puberty / bone" }, { "label": "Sleep disorder", "operationalDefinition": "Counts an explicit source report of a sleep disorder; sleep phenotype, diagnostic method, and timing remain source-specific.", "featureNumber": 11, "clinicalArea": "Sleep / state / fatigue" }, { "label": "Pectus abnormality", "operationalDefinition": "Counts an explicit source report of a pectus abnormality; type, severity, and assessment method remain source-specific.", "featureNumber": 12, "clinicalArea": "Growth / endocrine / puberty / bone" }, { "label": "Scoliosis", "operationalDefinition": "Counts an explicit source report of scoliosis; degree, timing, and assessment method remain source-specific.", "featureNumber": 13, "clinicalArea": "Growth / endocrine / puberty / bone" }, { "label": "Dysmetria or ataxic gait", "operationalDefinition": "Counts an explicit source report of dysmetria or ataxic gait; examination findings and functional description remain source-specific.", "featureNumber": 14, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Ocular finding", "operationalDefinition": "Counts an explicit source report of an ocular finding; structural, refractive, oculomotor, and visual-function findings are not assumed equivalent.", "featureNumber": 15, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Hearing impairment", "operationalDefinition": "Counts an explicit source report of hearing impairment; laterality, type, severity, and test method remain source-specific.", "featureNumber": 16, "clinicalArea": "ENT / hearing / airway" }, { "label": "Gastrointestinal disturbance", "operationalDefinition": "Counts an explicit source report of gastrointestinal disturbance; symptom, diagnosis, timing, and assessment method remain source-specific.", "featureNumber": 17, "clinicalArea": "GI / fuel / bowel" }, { "label": "Anxiety or depression", "operationalDefinition": "Counts an explicit source report of anxiety or depression; formal diagnosis and descriptive symptoms remain source-specific.", "featureNumber": 18, "clinicalArea": "Behavior / sensory" }, { "label": "Facial dysmorphism", "operationalDefinition": "Counts an explicit source report of facial dysmorphism; individual features and examiner interpretation remain source-specific.", "featureNumber": 19, "clinicalArea": "Growth / endocrine / puberty / bone" }, { "label": "Growth failure", "operationalDefinition": "Counts an explicit source report of growth failure; growth measure, reference standard, age, and persistence remain source-specific.", "featureNumber": 20, "clinicalArea": "Growth / endocrine / puberty / bone" }, { "label": "Microcephaly", "operationalDefinition": "Counts an explicit source report of microcephaly; congenital versus acquired status, measurement, age, and reference standard remain source-specific.", "featureNumber": 21, "clinicalArea": "Growth / endocrine / puberty / bone" }, { "label": "Delayed myelination", "operationalDefinition": "Counts an explicit source report of delayed myelination; imaging modality, age, comparison standard, and follow-up remain source-specific.", "featureNumber": 22, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Skeletal abnormality", "operationalDefinition": "Counts an explicit source report of a skeletal abnormality; anatomy, diagnosis, and assessment method remain source-specific.", "featureNumber": 23, "clinicalArea": "Growth / endocrine / puberty / bone" }, { "label": "Multiple congenital anomalies", "operationalDefinition": "Counts an explicit source report of multiple congenital anomalies; the included anomalies and diagnostic workup remain source-specific.", "featureNumber": 24, "clinicalArea": "Birth / feeding" }, { "label": "Fine-motor delay or impairment", "operationalDefinition": "Counts an explicit source report of fine-motor delay or impairment; task, age, and assessment method remain source-specific.", "featureNumber": 25, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Learning difficulty", "operationalDefinition": "Counts an explicit source report of learning difficulty; affected domain, educational context, and assessment method remain source-specific.", "featureNumber": 26, "clinicalArea": "Development / language" }, { "label": "Sleep apnea", "operationalDefinition": "Counts an explicit source report of sleep apnea; suspected and test-confirmed apnea remain distinct when the source provides that detail.", "featureNumber": 27, "clinicalArea": "Sleep / state / fatigue" }, { "label": "Abnormal tone", "operationalDefinition": "Counts an explicit source report of abnormal muscle tone; hypotonia, hypertonia, mixed tone, examination method, and timing remain source-specific.", "featureNumber": 28, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Feeding or gastrointestinal finding", "operationalDefinition": "Counts an explicit source report of a feeding or gastrointestinal finding; feeding mechanics and gastrointestinal symptoms are not assumed equivalent.", "featureNumber": 29, "clinicalArea": "GI / fuel / bowel" }, { "label": "Abnormal gait", "operationalDefinition": "Counts an explicit source report of abnormal gait; gait pattern, cause, severity, and examination method remain source-specific.", "featureNumber": 30, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Abnormal brain imaging among imaged participants", "operationalDefinition": "Counts an abnormal brain-imaging result only among participants reported as imaged; imaging method and abnormality remain source-specific.", "featureNumber": 31, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Poor memory", "operationalDefinition": "Counts an explicit source report of poor memory; memory domain, assessment method, and functional context remain source-specific.", "featureNumber": 32, "clinicalArea": "Development / language" }, { "label": "Developmental coordination disorder", "operationalDefinition": "Counts an explicit source report of developmental coordination disorder; formal diagnosis and descriptive coordination difficulty remain distinct.", "featureNumber": 33, "clinicalArea": "Motor / tone / gait / vision" }, { "label": "Epileptic seizures and/or epileptiform EEG", "operationalDefinition": "Counts a source report of epileptic seizures and/or an epileptiform EEG; clinical events and EEG findings remain distinct in the result row.", "featureNumber": 34, "clinicalArea": "Seizure / EEG / spells" } ], "results": [ { "stratum": "all eligible participants", "sourceTerm": "severe intellectual disability", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Okamoto et al. 2017, PubMed abstract PMID 28394464, first sentence", "harmonization": "exact", "notes": "", "resultNumber": 1, "studyNumber": 1, "featureNumber": 1, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "growth failure", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Okamoto et al. 2017, PubMed abstract PMID 28394464, first sentence", "harmonization": "exact", "notes": "", "resultNumber": 2, "studyNumber": 1, "featureNumber": 20, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "microcephaly", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Okamoto et al. 2017, PubMed abstract PMID 28394464, first sentence", "harmonization": "exact", "notes": "", "resultNumber": 3, "studyNumber": 1, "featureNumber": 21, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "facial dysmorphism", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Okamoto et al. 2017, PubMed abstract PMID 28394464, first sentence", "harmonization": "exact", "notes": "", "resultNumber": 4, "studyNumber": 1, "featureNumber": 19, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "myelination delay", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Okamoto et al. 2017, PubMed abstract PMID 28394464, first sentence", "harmonization": "exact", "notes": "", "resultNumber": 5, "studyNumber": 1, "featureNumber": 22, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "skeletal abnormalities", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Okamoto et al. 2017, PubMed abstract PMID 28394464, first sentence", "harmonization": "exact", "notes": "", "resultNumber": 6, "studyNumber": 1, "featureNumber": 23, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "multiple congenital anomalies (MCA)", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Shen et al. 2019, PubMed abstract PMID 29753921, case-description sentence", "harmonization": "exact", "notes": "", "resultNumber": 7, "studyNumber": 2, "featureNumber": 24, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "fine motor developmental delay", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Shen et al. 2019, PubMed abstract PMID 29753921, case-description sentence", "harmonization": "exact", "notes": "", "resultNumber": 8, "studyNumber": 2, "featureNumber": 25, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "learning difficulties", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Shen et al. 2019, PubMed abstract PMID 29753921, case-description sentence", "harmonization": "exact", "notes": "", "resultNumber": 9, "studyNumber": 2, "featureNumber": 26, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "attention deficit hyperactivity disorder", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Shen et al. 2019, PubMed abstract PMID 29753921, case-description sentence", "harmonization": "exact", "notes": "", "resultNumber": 10, "studyNumber": 2, "featureNumber": 8, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "sleep apnea", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Shen et al. 2019, PubMed abstract PMID 29753921, case-description sentence", "harmonization": "exact", "notes": "", "resultNumber": 11, "studyNumber": 2, "featureNumber": 27, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "scoliosis", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Shen et al. 2019, PubMed abstract PMID 29753921, case-description sentence", "harmonization": "exact", "notes": "", "resultNumber": 12, "studyNumber": 2, "featureNumber": 13, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "mild intellectual disability", "positiveN": 2, "assessedN": 2, "negativeN": 0, "eligibleN": 2, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "PubMed abstract PMID 34373061", "harmonization": "exact", "notes": "", "resultNumber": 13, "studyNumber": 3, "featureNumber": 1, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "seizures", "positiveN": 2, "assessedN": 2, "negativeN": 0, "eligibleN": 2, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "PubMed abstract PMID 34373061", "harmonization": "exact", "notes": "", "resultNumber": 14, "studyNumber": 3, "featureNumber": 6, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "ID/DD (intellectual disability/developmental delay)", "positiveN": 2, "assessedN": 3, "negativeN": 1, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “ID/DD”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 15, "studyNumber": 4, "featureNumber": 1, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "ASD (autism spectrum disorder)", "positiveN": 3, "assessedN": 3, "negativeN": 0, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “ASD”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 16, "studyNumber": 4, "featureNumber": 2, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Motor delay", "positiveN": 1, "assessedN": 2, "negativeN": 1, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Motor delay”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 17, "studyNumber": 4, "featureNumber": 3, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Speech delay", "positiveN": 2, "assessedN": 2, "negativeN": 0, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Speech delay”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 18, "studyNumber": 4, "featureNumber": 4, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Feeding difficulties", "positiveN": 1, "assessedN": 2, "negativeN": 1, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Feeding difficulties”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 19, "studyNumber": 4, "featureNumber": 5, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Seizures", "positiveN": 2, "assessedN": 3, "negativeN": 1, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Seizures”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 20, "studyNumber": 4, "featureNumber": 6, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Obsessive behaviors", "positiveN": 2, "assessedN": 2, "negativeN": 0, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Obsessive behaviors”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 21, "studyNumber": 4, "featureNumber": 7, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "ADHD or hyperactivity", "positiveN": 3, "assessedN": 3, "negativeN": 0, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “ADHD or hyperactivity”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 22, "studyNumber": 4, "featureNumber": 8, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Hypotonia", "positiveN": 1, "assessedN": 3, "negativeN": 2, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Hypotonia”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 23, "studyNumber": 4, "featureNumber": 9, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Genital malformations", "positiveN": 0, "assessedN": 2, "negativeN": 2, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Genital malformations”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 24, "studyNumber": 4, "featureNumber": 10, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Sleep disorders", "positiveN": 1, "assessedN": 3, "negativeN": 2, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Sleep disorders”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 25, "studyNumber": 4, "featureNumber": 11, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Pectus carinatum/excavatum", "positiveN": 0, "assessedN": 2, "negativeN": 2, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Pectus carinatum/excavatum”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 26, "studyNumber": 4, "featureNumber": 12, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Scoliosis", "positiveN": 0, "assessedN": 2, "negativeN": 2, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Scoliosis”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 27, "studyNumber": 4, "featureNumber": 13, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Dysmetria/ataxic gait", "positiveN": 2, "assessedN": 3, "negativeN": 1, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Dysmetria/ataxic gait”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 28, "studyNumber": 4, "featureNumber": 14, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Hyperopia/Astigmatism/Strabismus/Nystagmus", "positiveN": 1, "assessedN": 3, "negativeN": 2, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Hyperopia/Astigmatism/Strabismus/Nystagmus”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 29, "studyNumber": 4, "featureNumber": 15, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Hearing impairment", "positiveN": 1, "assessedN": 3, "negativeN": 2, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Hearing impairment”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 30, "studyNumber": 4, "featureNumber": 16, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Gastrointestinal disturbances", "positiveN": 2, "assessedN": 2, "negativeN": 0, "eligibleN": 3, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Gastrointestinal disturbances”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 31, "studyNumber": 4, "featureNumber": 17, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Anxiety/Depression", "positiveN": 2, "assessedN": 3, "negativeN": 1, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Anxiety/Depression”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 32, "studyNumber": 4, "featureNumber": 18, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "Facial dysmorphisms", "positiveN": 1, "assessedN": 3, "negativeN": 2, "eligibleN": 3, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Cordova et al. 2024, Table 1, row “Facial dysmorphisms”; BGR 1–3 columns only", "harmonization": "exact", "notes": "NR is retained as missing and is not recoded as negative. Family-reported starred negatives remain explicit negatives in the published table.", "resultNumber": 33, "studyNumber": 4, "featureNumber": 19, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "ASD consensus: Y only", "positiveN": 9, "assessedN": 22, "negativeN": 13, "eligibleN": 23, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Papendorp et al. revised-preprint human-subject supplement, Autism column", "harmonization": "exact", "notes": "Two additional participants were classified Probable; they are not included in this narrow confirmed-ASD numerator.", "resultNumber": 34, "studyNumber": 5, "featureNumber": 2, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "mild or moderate ID, or borderline cognitive classification", "positiveN": 20, "assessedN": 22, "negativeN": 2, "eligibleN": 23, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Papendorp et al. revised-preprint human-subject supplement, ID column", "harmonization": "composite", "notes": "The composite preserves the supplement categories: 13 mild, 2 moderate, 5 borderline, 2 normal, and 1 N/A.", "resultNumber": 35, "studyNumber": 5, "featureNumber": 1, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "any feeding or gastrointestinal entry versus 'none noted'", "positiveN": 17, "assessedN": 23, "negativeN": 6, "eligibleN": 23, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Papendorp et al. revised-preprint human-subject supplement, Feeding or Gastrointestinal column", "harmonization": "composite", "notes": "", "resultNumber": 36, "studyNumber": 5, "featureNumber": 29, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "abnormal tone", "positiveN": 7, "assessedN": 23, "negativeN": 16, "eligibleN": 23, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Papendorp et al. revised-preprint human-subject supplement, Tone column", "harmonization": "exact", "notes": "Includes five hypotonia-coded and two increased/asymmetric-tone entries.", "resultNumber": 37, "studyNumber": 5, "featureNumber": 28, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "appendicular and/or truncal ataxia coded present", "positiveN": 16, "assessedN": 23, "negativeN": 7, "eligibleN": 23, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Papendorp et al. revised-preprint human-subject supplement, Ataxia column", "harmonization": "exact", "notes": "", "resultNumber": 38, "studyNumber": 5, "featureNumber": 14, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "abnormal gait coded in the public table", "positiveN": 8, "assessedN": 23, "negativeN": 15, "eligibleN": 23, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Papendorp et al. revised-preprint human-subject supplement, Gait column", "harmonization": "exact", "notes": "", "resultNumber": 39, "studyNumber": 5, "featureNumber": 30, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "fine-motor impairment among classifiable entries", "positiveN": 10, "assessedN": 21, "negativeN": 11, "eligibleN": 23, "missingN": 2, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "2 eligible participants do not have a reportable value for this result.", "sourceLocator": "Papendorp et al. revised-preprint human-subject supplement, Fine motor column", "harmonization": "exact", "notes": "Two entries were not classifiable as a closed positive/negative assessment.", "resultNumber": 40, "studyNumber": 5, "featureNumber": 25, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "participants with interpretable brain imaging", "sourceTerm": "any non-normal finding in the supplement’s brain-imaging Findings field", "positiveN": 4, "assessedN": 13, "negativeN": 9, "eligibleN": 23, "missingN": 10, "denominatorBasis": "participants with at least one interpretable imaging study", "assessmentStatus": "Only a tested subset of participants is reported", "denominatorClosure": "Only an assessed subset of participants is reported", "missingnessState": "10 eligible participants do not have a reportable value for this result.", "sourceLocator": "Papendorp et al. 2025 revised preprint, Human subjects data supplement, Sheet1, columns R:T (“Brain imaging: age/modality/findings”); participant rows with interpretable imaging", "harmonization": "exact", "notes": "The numerator is abnormal imaging among 13 imaged participants, not 4/23 prevalence.", "resultNumber": 41, "studyNumber": 5, "featureNumber": 31, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "female participants", "sourceTerm": "history of clinical epilepsy", "positiveN": 7, "assessedN": 13, "negativeN": 6, "eligibleN": 13, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Papendorp et al. 2025 revised preprint, Results paragraph beginning “In the girls…”", "harmonization": "exact", "notes": "The public supplement's epilepsy and EEG cells do not fully reconcile with the narrative counts. Preserve both sources; do not pool.", "resultNumber": 42, "studyNumber": 5, "featureNumber": 6, "sourceDetailStatus": "Primary text; source sections disagree", "includedInStudySpecificResults": false }, { "stratum": "male participants with stated seizure-history denominator", "sourceTerm": "history of seizures", "positiveN": 3, "assessedN": 9, "negativeN": 6, "eligibleN": 10, "missingN": 1, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature reported selectively", "denominatorClosure": "Eligible participants are missing", "missingnessState": "1 eligible participant does not have a reportable value for this result.", "sourceLocator": "Papendorp et al. 2025 revised preprint, Results paragraph beginning “In the girls…”", "harmonization": "exact", "notes": "The supplement contains four male epilepsy-coded rows. This narrative/supplement conflict is unresolved.", "resultNumber": 43, "studyNumber": 5, "featureNumber": 6, "sourceDetailStatus": "Primary text; source sections disagree", "includedInStudySpecificResults": false }, { "stratum": "all eligible participants", "sourceTerm": "mild intellectual disability; WAIS 65", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Liao et al. 2025, Materials and methods / proband description", "harmonization": "exact", "notes": "", "resultNumber": 44, "studyNumber": 6, "featureNumber": 1, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "poor learning abilities", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Liao et al. 2025, Materials and methods / proband description", "harmonization": "exact", "notes": "", "resultNumber": 45, "studyNumber": 6, "featureNumber": 26, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "poor memory", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Liao et al. 2025, Materials and methods / proband description", "harmonization": "exact", "notes": "", "resultNumber": 46, "studyNumber": 6, "featureNumber": 32, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "no seizures", "positiveN": 0, "assessedN": 1, "negativeN": 1, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Liao et al. 2025, Materials and methods / proband description", "harmonization": "exact", "notes": "", "resultNumber": 47, "studyNumber": 6, "featureNumber": 6, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "mild autism spectrum disorder", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Pulatov et al. 2025, Abstract—Case presentation", "harmonization": "exact", "notes": "VUS comparator; excluded from the direct pathogenic rare-variant summary.", "resultNumber": 48, "studyNumber": 7, "featureNumber": 2, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "attention-deficit/hyperactivity disorder", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Pulatov et al. 2025, Abstract—Case presentation", "harmonization": "exact", "notes": "VUS comparator; excluded from the direct pathogenic rare-variant summary.", "resultNumber": 49, "studyNumber": 7, "featureNumber": 8, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "delayed walking", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Pulatov et al. 2025, case presentation §§Par8–Par14", "harmonization": "exact", "notes": "VUS comparator.", "resultNumber": 50, "studyNumber": 7, "featureNumber": 3, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "developmental expressive language disorder", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Pulatov et al. 2025, case presentation §§Par8–Par14", "harmonization": "exact", "notes": "VUS comparator.", "resultNumber": 51, "studyNumber": 7, "featureNumber": 4, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "mild infantile hypotonia", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Pulatov et al. 2025, case presentation §Par8", "harmonization": "exact", "notes": "VUS comparator.", "resultNumber": 52, "studyNumber": 7, "featureNumber": 9, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "lacks seizures", "positiveN": 0, "assessedN": 1, "negativeN": 1, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Pulatov et al. 2025, Discussion §Par14", "harmonization": "exact", "notes": "VUS comparator.", "resultNumber": 53, "studyNumber": 7, "featureNumber": 6, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "mild developmental coordination disorder", "positiveN": 1, "assessedN": 1, "negativeN": 0, "eligibleN": 1, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Pulatov et al. 2025, Physical, neurological, and neurodevelopmental examination", "harmonization": "exact", "notes": "VUS comparator.", "resultNumber": 54, "studyNumber": 7, "featureNumber": 33, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true }, { "stratum": "all eligible participants", "sourceTerm": "epileptic seizures and/or epileptiform EEG", "positiveN": 14, "assessedN": 26, "negativeN": 12, "eligibleN": 26, "missingN": 0, "denominatorBasis": "participants with an explicit positive or negative entry", "assessmentStatus": "Feature assessed systematically", "denominatorClosure": "All eligible participants accounted for", "missingnessState": "No eligible participant is missing from this result.", "sourceLocator": "Nie et al. 2025, AES abstract 2.465, Results", "harmonization": "composite", "notes": "Nine of 14 female and five of 12 male participants met the composite endpoint. This cohort likely overlaps or extends Papendorp 2025 and is never pooled with it.", "resultNumber": 55, "studyNumber": 10, "featureNumber": 34, "sourceDetailStatus": "Primary source", "includedInStudySpecificResults": true } ], "termHarmonizationRule": "Result rows retain the source-specific term. Broader and narrower terms are not combined unless a documented harmonization rule is applied.", "connectedPeopleComparison": { "sourceFile": "ASH1L_Clinical_Area_Information.json", "preparedOn": "2026-08-31", "release": { "id": "ASH1L-ACCEPTED-ATLAS-RELEASE-2026-08-31", "releasedOn": "2026-08-31", "sexCounts": { "male": 38, "female": 25, "notReported": 0 } }, "interpretationNote": "Information available means at least one available source addresses the broad clinical area; it is not a feature-specific assessment denominator or prevalence estimate. Original clinical or laboratory source documents are a subset of the available information. Published-study and connected-community counts are never combined.", "connectedPeopleN": 63, "rows": [ { "connected_people_n": 63, "clinical_area": "Birth / feeding", "information_available_n": 29, "area_not_addressed_n": 34, "original_source_documents_available_n": 5, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 20, "positive_and_negative_or_unresolved_n": 9, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 0, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Genetics", "information_available_n": 63, "area_not_addressed_n": 0, "original_source_documents_available_n": null, "original_source_count_note": "Current total not established; historical record indicators are not a verified original-source inventory. Reviewed September 7, 2026.", "positive_only_n": 51, "positive_and_negative_or_unresolved_n": 11, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 1, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Development / language", "information_available_n": 50, "area_not_addressed_n": 13, "original_source_documents_available_n": 12, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 44, "positive_and_negative_or_unresolved_n": 6, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 0, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Seizure / EEG / spells", "information_available_n": 43, "area_not_addressed_n": 20, "original_source_documents_available_n": 16, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 7, "positive_and_negative_or_unresolved_n": 20, "explicit_negative_only_n": 11, "unresolved_without_positive_n": 5, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Sleep / state / fatigue", "information_available_n": 41, "area_not_addressed_n": 22, "original_source_documents_available_n": 7, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 31, "positive_and_negative_or_unresolved_n": 10, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 0, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Oral / dental / chewing", "information_available_n": 37, "area_not_addressed_n": 26, "original_source_documents_available_n": 5, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 21, "positive_and_negative_or_unresolved_n": 13, "explicit_negative_only_n": 2, "unresolved_without_positive_n": 1, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "GI / fuel / bowel", "information_available_n": 38, "area_not_addressed_n": 25, "original_source_documents_available_n": 6, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 22, "positive_and_negative_or_unresolved_n": 15, "explicit_negative_only_n": 1, "unresolved_without_positive_n": 0, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "ENT / hearing / airway", "information_available_n": 33, "area_not_addressed_n": 30, "original_source_documents_available_n": 6, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 12, "positive_and_negative_or_unresolved_n": 17, "explicit_negative_only_n": 3, "unresolved_without_positive_n": 1, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Motor / tone / gait / vision", "information_available_n": 49, "area_not_addressed_n": 14, "original_source_documents_available_n": 12, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 29, "positive_and_negative_or_unresolved_n": 19, "explicit_negative_only_n": 1, "unresolved_without_positive_n": 0, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Behavior / sensory", "information_available_n": 49, "area_not_addressed_n": 14, "original_source_documents_available_n": 14, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 37, "positive_and_negative_or_unresolved_n": 12, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 0, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Immune / skin / mucosal", "information_available_n": 38, "area_not_addressed_n": 25, "original_source_documents_available_n": 11, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 19, "positive_and_negative_or_unresolved_n": 15, "explicit_negative_only_n": 3, "unresolved_without_positive_n": 1, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Autonomic / cardiac / urinary / temperature", "information_available_n": 30, "area_not_addressed_n": 33, "original_source_documents_available_n": 10, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 10, "positive_and_negative_or_unresolved_n": 18, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 2, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Growth / endocrine / puberty / bone", "information_available_n": 37, "area_not_addressed_n": 26, "original_source_documents_available_n": 11, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 18, "positive_and_negative_or_unresolved_n": 16, "explicit_negative_only_n": 2, "unresolved_without_positive_n": 1, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Medication / anesthesia", "information_available_n": 40, "area_not_addressed_n": 23, "original_source_documents_available_n": 9, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 27, "positive_and_negative_or_unresolved_n": 13, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 0, "other_information_available_n": 0 }, { "connected_people_n": 63, "clinical_area": "Function / school / adult", "information_available_n": 34, "area_not_addressed_n": 29, "original_source_documents_available_n": 3, "original_source_count_note": "Original clinical or laboratory sources addressing this area.", "positive_only_n": 33, "positive_and_negative_or_unresolved_n": 1, "explicit_negative_only_n": 0, "unresolved_without_positive_n": 0, "other_information_available_n": 0 } ] } }