| All cases (n = 145) | Trios (n = 96) | Proband-only (n = 49) |
---|---|---|---|
Autosomal dominant (AD) | 24 | 17 | 7 |
 De novo | 18 | 14 | 7 |
 Inherited | 6 | 3 | 0 |
Autosomal recessive (AR) | 8 | 8 | 0 |
 Compound heterozygous | 7 | 7 | 0 |
 Homozygous | 1 | 1 | 0 |
X-linked dominant (XLD) | 2 | 2 | 0 |
X-linked recessive (XLR) | 1 | 0 | 1 |
Total molecular diagnoses | 35 | 27 | 8 |