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Summary
X-LINKED ICHTHYOSIS
STEROID SULFATASE DEFICIENCY
308100
OMIM = Online Medalian Inheritance of Men
461
Xp22.31
rare
X-linked recessive
Pregnant mothers of affected children have decreased plasma and urinary estrogen
symptoms
corneal deposits
cryptorchism
ichthyosis
onset, infancy
onset, neonatal
skin defects
laboratory finding
Literature
Endo Y,Furuta A, Nishino IDanon disease: a phenotypic expression of LAMP-2 deficiencyActa Neuropathol1293391-3982015