| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1p12 | Alagille syndrome 2 | 610205 | AD | 3 |
| Hajdu-Cheney syndrome | 102500 | AD | 3 |
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1p12 | Alagille syndrome 2 | 610205 | AD | 3 | NOTCH2 | 600275 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 20p12.2 | Alagille syndrome 1 | 118450 | AD | 3 | JAG1 | 601920 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 20p12.2 | ?Deafness, congenital heart defects, and posterior embryotoxon | 617992 | AD | 3 |
| Alagille syndrome 1 | 118450 | AD | 3 | |
| Charcot-Marie-Tooth disease, axonal, type 2HH | 619574 | AD | 3 | |
| Tetralogy of Fallot | 187500 | AD | 3 |
|
|
|
|
|
|
|
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