| X-LINKED ICHTHYOSIS | |
| STEROID SULFATASE DEFICIENCY | |
|
308100
OMIM = Online Mendelian Inheritance of Men | |
|
461 | |
| Steryl-sulfatase | |
| 3.1.6.2 | |
| Xp22.31 |
|
| Q80.1 | |
| rare X-linked recessive Pregnant mothers of affected children have decreased plasma and urinary estrogen | |
| Laboratory findings | |
| Symptoms | corneal deposits cryptorchism ichthyosis onset, infancy onset, neonatal skin defects |