| Gene (OMIM) | Inheritance | Key Locus References (PubMed) | Key Gene References (PubMed) | Evidence (ClinGen)  |
|---|---|---|---|---|
| SEMA3E | Autosomal Dominant | Lalani et al., 2004 | Lalani et al., 2004 | not reviewed |
| CHD7 | Autosomal Dominant | Vissers et al., 2004 | Vissers et al., 2004 | Definitive |