| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 7q22.1 | MEDNIK syndrome | 609313 | AR | 3 | AP1S1 | 603531 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 22q12.2 | Keratitis-ichthyosis-deafness syndrome, autosomal recessive | 242150 | AR | 3 | AP1B1 | 600157 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 13q12.11 | Keratitis-ichthyosis-deafness syndrome | AD | 3 | 148210 | GJB2 | 121011 |
| 22q12.2 | Keratitis-ichthyosis-deafness syndrome, autosomal recessive | AR | 3 | 242150 | AP1B1 | 600157 |
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 22q12.2 | Keratitis-ichthyosis-deafness syndrome, autosomal recessive | 242150 | AR | 3 |
|
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 7q22.1 | MEDNIK syndrome | 609313 | AR | 3 |
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|
|
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