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Results 1 - 6 of 6 for Autosomal recessive congenital ichthyosis 1
  1. Lamellar ichthyosis 
    ... ClinicalTrials.gov ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1; ARCI1 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 ICHTHYOSIS, ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  2. Nonbullous congenital ichthyosiform erythroderma 
    ... AS, Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  3. Epidermolytic hyperkeratosis 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... Registry: Epidermolytic ichthyosis Autosomal ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  4. 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
  5. DOLK-congenital disorder of glycosylation 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. CDG1M Congenital disorder of glycosylation, type Im DK1 deficiency Dolichol ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  6. Trichothiodystrophy 
    ... RNF113A TARS1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics