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Results 1 - 10 of 13 for Autosomal ichthyosis syndrome with other associated signs
  1. ... 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 ...
  2. ... 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 ...
  3. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... Genetic Testing ...
  4. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ... Genetic ...
  5. ... 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 ...
  6. ... disorder. The parents of an individual with an autosomal recessive condition each carry ... ichthyosis NLSDI Triglyceride storage disease with ichthyosis Triglyceride storage ...
  7. ... mutated gene, but they typically do not show signs and symptoms of the condition. Affected individuals ... Genetic Testing Registry: Autosomal ...
  8. ... of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency. ... Genetic Testing ...
  9. ... 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 ...
  10. ... different genes can cause conditions with such similar signs and symptoms. The group of related conditions that includes ... Cardiofaciocutaneous syndrome is considered to be an autosomal dominant condition, which means one copy of an ...
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