| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5q32 | Achondrogenesis Ib | 600972 | AR | 3 |
| Atelosteogenesis, type II | 256050 | AR | 3 | |
| De la Chapelle dysplasia | 256050 | AR | 3 | |
| Diastrophic dysplasia | 222600 | AR | 3 | |
| Diastrophic dysplasia, broad bone-platyspondylic variant | 222600 | AR | 3 | |
| Epiphyseal dysplasia, multiple, 4 | 226900 | AR | 3 |
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|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 5q32 | Achondrogenesis Ib | 600972 | AR | 3 | SLC26A2 | 606718 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 5q32 | Achondrogenesis Ib | AR | 3 | 600972 | SLC26A2 | 606718 |
| 12q13.11 | Achondrogenesis, type II or hypochondrogenesis | AD | 3 | 200610 | COL2A1 | 120140 |
| 14q32.12 | Achondrogenesis, type IA | AR | 3 | 200600 | TRIP11 | 604505 |
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