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X-LINKED ICHTHYOSIS

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