X-linked ichthyosis with steryl-sulfatase deficiency
- Synonyms
- Ichthyosis, X-Linked; Placental steroid sulfatase deficiency; Recessive X-linked ichthyosis; STS DEFICIENCY; Steroid sulfatase deficiency; Steroid sulfatase deficiency disease
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (58 available)
Cytogenetics Tests
Clinical features
Help- Abnormality of limbs
- Palmar hyperlinearity
Palmar hyperlinearity
- MedGen UID: 400466
- Concept ID: C1864168
- Finding: Finding
Abnormality of limbs
- Palmoplantar keratoderma
Palmoplantar keratoderma
- MedGen UID: 1635750
- Concept ID: C4551675
- Finding: Disease or Syndrome
Abnormality of limbs
- Palmar hyperlinearity
- Abnormality of the eye
- Opacification of the corneal stroma
Opacification of the corneal stroma
- MedGen UID: 602191
- Concept ID: C0423250
- Finding: Finding
Abnormality of the eye
- Opacification of the corneal stroma
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the integument
- Congenital ichthyosiform erythroderma
Congenital ichthyosiform erythroderma
- MedGen UID: 86936
- Concept ID: C0079583
- Finding: Disease or Syndrome
Abnormality of the integument
- Hypohidrosis
Hypohidrosis
- MedGen UID: 43796
- Concept ID: C0020620
- Finding: Disease or Syndrome
Abnormality of the integument
- Ichthyosis
Ichthyosis
- MedGen UID: 7002
- Concept ID: C0020757
- Finding: Disease or Syndrome
Abnormality of the integument
- Congenital ichthyosiform erythroderma
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
- Neoplasm
- Testicular neoplasm
Testicular neoplasm
- MedGen UID: 52675
- Concept ID: C0039590
- Finding: Neoplastic Process
Neoplasm
- Testicular neoplasm
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