TABLE 1.
Genes associated with CdLS.
| Gene | phen | prev | Other associated developmental syndromes |
|---|---|---|---|
| NIPBL | C | 70% | |
| SMC1A | C/N | 5% | Rett syndrome-like Huisman et al. (2017)/Developmental and epileptic encephalopathy 85 (DEE85, OMIM 301044) |
| SMC3 | C/N/A | 1–2% | |
| HDAC8 | C/N | 4% | |
| RAD21 | N | <1% | Mungan syndrome (OMIM 611376) |
| ANKRD11 | N | <1% | KBG syndrome (KGBS, OMIM 148050) |
| BRD4 | A | <1% | Autosomal dominant syndromic congenital cataracts Jin et al. (2017) |
| AFF4 | A | <1% | CHOPS (OMIM 616368) |
| ARID1B | A | <1% | Coffin-siris syndrome 1 (CSS1, OMIM 135900) |
| EP300 | A | <1% | Rubinstein-taybi syndrome type 2 (RSTS2, OMIM 613684)/Menke hennekam syndrome 2 (MKHK2, OMIM 618333) |
| KMT2A | A | <1% | Wiedemann-steiner syndrome (WDSTS, OMIM 605130) |
| NAA10 | A | <1% | Odgen syndrome (OGDNS, OMIM 300855)/Syndromic microphthalmia 1 (MCOPS1, OMIM 309800) |
| SETD5 | A | <1% | Intellectual disability, autosomal dominant 23 (MRD23, OMIM 615761) |
| SMARCB1 | A | <1% | Coffin-siris syndrome 3 (CSS3, OMIM 614608) |
| TAF6 | A | <1% | Alazami-yuan syndrome (ALYUS, OMIM 617126) |
| ZMYND11 | A | <1% | Intellectual disability autosomal dominant 30 (MRD30, OMIM 616083) |
| PHIP | A | <1% | Chung-jansen syndrome (CHUJANS, OMIM 617991) |
| MED13L | A | <1% | Intellectual disability and distinctive facial features, with or without cardiac defects (MRFACD, OMIM 616789). Transposition of the great arteries, dextro-looped 1 (D-TGA, OMIM 608808) |
| MAU2 | C | <1% |
phen., phenotype: classic (C), non-classic (N), atypical (A, CdLS-overlapping phenotype), according to (Kline et al., 2018). prev., prevalence. For other references see https://www.omim.org/