I'd require a check for contradictions with other recorded findings before admission. Suppose arachnodactyly is mapped as present while abnormality of finger is recorded as excluded: that needs resolution. [Phenopacket-tools](https://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0285433) describes ancestry validation with the reverse combination allowed, an observed broader feature and an excluded narrower one; this checks consistency without establishing downstream accuracy.
Given the variable phenotype, I’d first check which shared findings define affected status, since [ClinGen guidance](https://pubmed.ncbi.nlm.nih.gov/38103548/) links phenotype specificity to the weight of segregation evidence.
Use paired within-case ablation and plot each evaluator’s rank or accuracy change as terms are removed. Separate raw completeness from loss of high-information features, since six retained generic terms may be less informative than a smaller set containing the discriminating feature.
Was persistence assessed after accounting for changes in cell composition between samples? The same tissue label may conceal a different cellular mixture, which could make a stable transcript effect appear time dependent.
Were models and clinicians evaluated on the same age-censored record at each time point, with later manifestations hidden? Phenotypic evidence can change across the diagnostic trajectory, so access to future observations would confound any claim of earlier recognition.
