| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 4p13 | {Neuroblastoma, susceptibility to, 2} | 613013 | 3 | |
| Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 209880 | AD | 3 | |
| Neuroblastoma with Hirschsprung disease | 613013 | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 4p13 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 209880 | AD | 3 | PHOX2B | 603851 |
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 4p13 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | AD | 3 | 209880 | PHOX2B | 603851 |
| 10q24.32 | ?Central hypoventilation syndrome, congenital, 3 | AR | 3 | 619483 | LBX1 | 604255 |
| 12q24.11 | ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction | AR | 3 | 619482 | MYO1H | 614636 |
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