Dyskeratosis congenita, autosomal recessive 5

MONDO:0014076

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.

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

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