Disease #00139 (DKC (Dyskeratosis Congenita), OMIM:305000)

Official abbreviation DKC
Name Dyskeratosis Congenita
OMIM ID 305000
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene DKC1
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00000745 L A Chong et al.(2009) M Malaysia Indian - - - DKC has dystrophic nails, intermittent dysphagia, oral leukoplakia, reticulated skin pigmentation, ulcerations. DKC1 DKC1 1 1 Nur Aisyah Athirah
00000746 L A Chong et al.(2009) M Malaysia Indian - - - DKC has brittle nails, leukoplakia, truncal hyperpigmentation and progressive dysphagia, hypoplasia. Died at 12 y/o. DKC1 DKC1 1 1 Nur Aisyah Athirah
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