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Solved patient group: inheritance pattern, consanguinity, and affected family members.
| Number of OMIM phenotypes | Reported consanguinity (%) | Affected parents/sibling | ||
|---|---|---|---|---|
| Monoallelic | 47 | 3 (6.6%) | ||
| De novo | 18 | - | ||
| Maternal | 5 | 4 | ||
| Paternal | 3 | 2 | ||
| Unknown | 21 | |||
| Biallelic | 38 | 16 (43.2%) | 10 | |
| Homozygous | 25 | 14 (58.3%) | ||
| Compound heterozygous | 13 | 2 (15.3%) | ||
| X-linked | 16 | - | ||
| De novo | 6 | |||
| Maternal | 7 | 1 | ||
| Unknown | 3 | |||
| Mitochondrial | 2 | 1 (50.0%) |
