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Characteristics of individuals with homozygous R222W and S346I variant SPLIS
| Case | Age at 1st sign of kidney disease | Age at sign of adrenal insufficiency | Age at sign of skin abnormality | Age at sign of neurological abnormality | Age at last report | Living (L) or deceased (Dc) at last report |
|---|---|---|---|---|---|---|
| R222W | ||||||
| 1 | 0.25 | 0.25 | 0.42 | 0.42 | Dc | |
| 2 | 0.17 | 0.17 | Dc (fetal hydrops) | |||
| 3 | Fetal demise | |||||
| 4 | Fetal demise | |||||
| S346I | ||||||
| 1 | 0.0 | 0.0 | 0.0 | 0.5 | Dc | |
| 2 | 0.1 | 0.1 | 0.1 | 0.1 | Dc | |
| 3 | Fetal demise | |||||
| 4 | Fetal demise | |||||
| 5 | 0.1 | 0.25 | Dc | |||
