Additional Disease Briefs

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* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
dyskeratosis congenita, autosomal recessive 1

Also known as: DKCB, DKCB1, autosomal recessive dyskeratosis congenita, autosomal recessive dyskeratosis congenita 1, dyskeratosis congenita autosomal recessive, dyskeratosis congenita, autosomal recessive 1, dyskeratosis congenita, autosomal recessive type 1

dyskeratosis congenita, autosomal recessive 5

Also known as: DKCB5, autosomal recessive dyskeratosis congenita 5, dyskeratosis congenita, autosomal dominant 4, dyskeratosis congenita, autosomal recessive 5, dyskeratosis congenita, autosomal recessive type 5

dyskeratosis congenita, autosomal recessive 6

Also known as: DKCB6, PARN dyskeratosis congenita, autosomal recessive dyskeratosis congenita 6, dyskeratosis congenita caused by mutation in PARN, dyskeratosis congenita, autosomal recessive 6, dyskeratosis congenita, autosomal recessive type 6

dyskeratosis congenita, X-linked

Also known as: DKCX, Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia, Hoyeraal Hreidarsson syndrome, X-linked dyskeratosis congenita, Zinsser-Cole-Engman syndrome, cerebellar hypoplasia with pancytopenia, dyskeratosis congenita X-linked, dyskeratosis congenita, X-linked, dyskeratosis congenita, X-linked, X-linked recessive

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