Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. [ MONDO:patterns/disease_series_by_gene http://www.ncbi.nlm.nih.gov/pubmed/12437656 http://www.ncbi.nlm.nih.gov/pubmed/10583221 http://www.ncbi.nlm.nih.gov/pubmed/14648217 http://www.ncbi.nlm.nih.gov/pubmed/19633571 https://clinicalgenome.org/affiliation/40006/ ]
Synonyms: DKC1-related disorder
Term information
gard_rare, otar, rare, clingen