Diamond-Blackfan anemia 22
MONDO:0979244Mondo
Findings
No curated finding names Diamond-Blackfan anemia 22 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
52 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.
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Clinodactyly of the 5th toeHPOHP:0001864
- 1 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 2 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Erythroid dysplasiaHPOHP:0031688
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
Show the remaining 40
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient
- Increased mean corpuscular volumeHPOHP:0005518
- 2 of 2 reported patients
- Interphalangeal thumb joint contractureHPOHP:0009626
- 1 of 1 reported patient
- LeukemiaHPOHP:0001909
- 1 of 1 reported patient
- PancytopeniaHPOHP:0001876
- 1 of 1 reported patient
Where it sits
- A kind of