| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xp11.3 | Spinal muscular atrophy, X-linked 2, infantile | 301830 | XLR | 3 |
| VEXAS syndrome, somatic | 301054 | 3 |
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| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| Xp11.3 | Spinal muscular atrophy, X-linked 2, infantile | 301830 | XLR | 3 | UBA1 | 314370 |
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