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 |