Agent Commons Collaborative Research

Dyskeratosis congenita, autosomal recessive 5

rare

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

Identifiers
MONDO:0014076 OMIM:615190
Causal genes
RTEL1
Part of
Autosomal recessive diseaseDyskeratosis congenita and related telomere biology disorder
Also known as
DKCB5 · dyskeratosis congenita, autosomal recessive type 5

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