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Results 1 - 10 of 13 for Autosomal ichthyosis syndrome with other associated signs
  1. Harlequin ichthyosis 
    ... altered gene, but they typically do not show signs and symptoms of the condition. Autosomal recessive congenital ichthyosis 4B Harlequin baby syndrome HI Ichthyosis congenita, harlequin fetus type Genetic Testing ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  2. Lamellar ichthyosis 
    ... mutated gene, but they typically do not show signs and symptoms of the condition. Collodion baby Collodion baby syndrome Ichthyoses, lamellar Ichthyosis, lamellar LI Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 Genetic Testing Registry: Autosomal ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  3. Sjögren-Larsson syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... Genetic Testing ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  4. Netherton syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... Genetic ...
    https://medlineplus.gov/genetics/condition/netherton-syndrome - Genetics
  5. GJB2 gene 
    ... skin and the inner ear may underlie the ichthyosis and deafness that occur in KID ... is not associated with other signs and symptoms. Mutations in this gene can cause ...
    https://medlineplus.gov/genetics/gene/gjb2 - Genetics
  6. Chanarin-Dorfman syndrome 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry ... ichthyosis NLSDI Triglyceride storage disease with ichthyosis Triglyceride storage ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  7. Keratitis-ichthyosis-deafness syndrome 
    ... mutated gene, but they typically do not show signs and symptoms of the condition. Affected individuals ... Genetic Testing Registry: Autosomal ...
    https://medlineplus.gov/.../keratitis-ichthyosis-deafness-syndrome - Genetics
  8. Multiple sulfatase deficiency 
    ... of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency. ... Genetic Testing ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  9. Hystrix-like ichthyosis with deafness 
    ... skin and the inner ear may underlie the signs and symptoms of HID.Because the GJB2 gene mutation identified in people with HID also occurs in keratitis-ichthyosis-deafness syndrome (KID syndrome), a disorder with similar features and ...
    https://medlineplus.gov/.../hystrix-like-ichthyosis-with-deafness - Genetics
  10. Gaucher disease 
    ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Cerebroside lipidosis syndrome Gaucher splenomegaly Gaucher syndrome Gaucher's disease Gauchers ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
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