Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Figure 2

The complex landscape of definitive diagnosed cases by variant types of (a) SDD and (b) MGD. Detailed subcategory comparisons in MGD cases: (c) variant types, (d) inheritance patterns, (e) diagnosis numbers, and (f) phenotypic complexity. Abbreviations: SDD: single definitive diagnosis; MGD: multiple genetic diagnoses; SNV: single nucleotide variants; CNV: copy number variants; AD: autosomal dominant; AR: autosomal recessive; XL: X-linked; DMGD: definitive multiple genetic diagnoses; PMGD: presumed multiple genetic diagnoses.

(a)

(b)

(c)

(d)

(e)

(f)