TABLE 1.
Description | Number |
---|---|
Total male patients with ID/LD | 192 |
Pathologic or likely pathologic CNV | 28 (15%) |
Likely pathological CNV but unknown in this phenotype | 2 (1%) |
AOH, no sequencing completed on the autosomal recessive genes in region | 8 (4%) |
VUS, no parental testing | 16 (8%) |
VUS and AOH, no parental testing and sequencing not informative | 2 (1%) |