| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 14q24.3 | Niemann-pick disease, type C2 | 607625 | AR | 3 |
|
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 18q11.2 | Niemann-Pick disease, type C1 | 257220 | AR | 3 | NPC1 | 607623 |
| 18q11.2 | Niemann-Pick disease, type D | 257220 | AR | 3 | NPC1 | 607623 |
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 14q24.3 | Niemann-pick disease, type C2 | 607625 | AR | 3 | NPC2 | 601015 |
|
|
|
|
|
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 18q11.2 | Niemann-Pick disease, type C1 | 257220 | AR | 3 |
| Niemann-Pick disease, type D | 257220 | AR | 3 |
|
|
|
|
|
|
|
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