Diamond-Blackfan anemia 3
- Synonyms
- RPS24-Related Diamond-Blackfan Anemia
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Colin Sieff
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (37 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Increased mean corpuscular volume
Increased mean corpuscular volume
- MedGen UID: 81303
- Concept ID: C0302845
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Macrocytic anemia
Macrocytic anemia
- MedGen UID: 1920
- Concept ID: C0002886
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Persistence of hemoglobin F
Persistence of hemoglobin F
- MedGen UID: 68693
- Concept ID: C0239941
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Reticulocytopenia
Reticulocytopenia
- MedGen UID: 167812
- Concept ID: C0858867
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Increased mean corpuscular volume
- Abnormality of head or neck
- Webbed neck
Webbed neck
- MedGen UID: 113154
- Concept ID: C0221217
- Finding: Congenital Abnormality
Abnormality of head or neck
- Webbed neck
- Abnormality of metabolism/homeostasis
- Elevated red cell adenosine deaminase activity
Elevated red cell adenosine deaminase activity
- MedGen UID: 1853120
- Concept ID: C5872908
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated red cell adenosine deaminase activity
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