Syndromic cone–rod dystrophies (CORDs) with identified genes and known chromosomal loci
| Syndromic CORD; OMIM number | Mode of inheritance | Chromosome locus | Mutated gene | Ref. |
|---|---|---|---|---|
| AD, autosomal dominant; AR, autosomal recessive; NI, not identified; Ref., reference. | ||||
| CORD & amelogenesis imperfecta; 217080 | AR | 2q11 | NI | 1 |
| CORD & spinocerebellar ataxia type 7; 164500 | AD | 3p12–13 | SCA7 | 2 |
| CORD & NF1; 136550 | AD | 17q | NF1 | 3 |
| CORD & Bardet-Biedl syndrome; 209900, 606151, 600151, 600374, 603650, 607590 | AR | 11q13 | BBS1 | 4 |
| 16q21 | BBS2 | 5 | ||
| 3p13–p12 | NI | 6 | ||
| 15q22.3–q23 | BBS4 | 7 | ||
| 2q31 | NI | 8 | ||
| 20p12 | BBS6 | 9 | ||
| 4q27 | BBS7 | 10 | ||
| CORD & Alström syndrome; 203800 | AR | 2p13 | ALMS1 | 11 |