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Summarized Phenotypes by Variant Type
| Subset | # | Intellectual Disability | Autism | Epilepsy | Macrocephaly | Microcephaly |
|---|---|---|---|---|---|---|
| Protein-Truncating Variants | ||||||
| Total | 30 | 81% (13/16) | 26% (7/27) | 15% (4/26) | 55% (16/29) | 0% (0/29) |
| Male | 22 | 82% (9/11) | 35% (7/20) | 5% (1/19) | 52% (11/21) | 0% (0/21) |
| Female | 8 | 80% (4/5) | 0% (0/7) | 43% (3/7) | 63% (5/8) | 0% (0/8) |
| Microdeletion | ||||||
| Total | 4 | 100% (4/4) | 25% (1/4) | 75% (3/4) | 50% (2/4) | 0% (0/4) |
| Missense | ||||||
| Total | 4 | 100% (3/3) | 33% (1/3) | 100% (4/4) | 0% (0/3) | 66% (2/3) |
