dyskeratosis congenita, digenic
MONDO:0031057Mondo
Findings
No curated finding names dyskeratosis congenita, digenic yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Digenic inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal skin pigmentationHPOHP:0001000
- 10 of 10 reported patients
- AlopeciaHPOHP:0001596
- 9 of 9 reported patients
- Nail dystrophyHPOHP:0008404
- 10 of 10 reported patients
- Sparse eyelashesHPOHP:0000653
- 9 of 9 reported patients
- Short telomere lengthHPOHP:0031413
- 2 of 3 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 4 of 9 reported patients
- Oral leukoplakiaHPOHP:0002745
- 4 of 10 reported patients
- Recurrent infectionsHPOHP:0002719
- 3 of 10 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 9 reported patients
- Short statureHPOHP:0004322
- 2 of 10 reported patients
- Abnormal palmar dermatoglyphicsHPOHP:0001018
- 1 of 10 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 1 of 10 reported patients
Show the remaining 13
- AnemiaHPOHP:0001903
- 1 of 10 reported patients
- Basal cell carcinomaHPOHP:0002671
- 1 of 10 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 10 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 10 reported patients
- DysphagiaHPOHP:0002015
- 1 of 10 reported patients
- EpiphoraHPOHP:0009926
- 1 of 10 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: dyskeratosis congenita, digenic
- Also called
- DKCD