| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xp11.3 | Kabuki syndrome 2 | 300867 | XLD | 3 | KDM6A | 300128 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 12q13.12 | Kabuki syndrome 1 | 147920 | AD | 3 | KMT2D | 602113 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xp11.3 | Kabuki syndrome 2 | 300867 | XLD | 3 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 12q13.12 | Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | 620186 | AD | 3 |
| Kabuki syndrome 1 | 147920 | AD | 3 |
|
|
|
|
|
|
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