Synonym(s): - RXLI - Steroid sulfatase deficiency - X-linked ichthyosis - XLI
Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive		External references: 2 OMIM references - See 1 MeSH reference: D016114
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
STS	P08842	300747

- Dry / squaly skin / exfoliation
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Ichthyosis / ichthyosiform dermatitis
- Insterstitial / subtelomeric microdeletion / deletion
- X-linked recessive inheritance

- Corneal clouding / opacity / vascularisation
- Hyperactivity / attention deficit

- Autism / autistic disoders
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Undescended / ectopic testes / cryptorchidia / unfixed testes