Diamond-Blackfan anemia 20
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 (5 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Erythroid hypoplasia
Erythroid hypoplasia
- MedGen UID: 488912
- Concept ID: C0542035
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of limbs
- Acetabular dysplasia
Acetabular dysplasia
- MedGen UID: 233069
- Concept ID: C1328407
- Finding: Anatomical Abnormality
Abnormality of limbs
- Acetabular dysplasia
- Abnormality of the cardiovascular system
- Congenital total pulmonary venous return anomaly
Congenital total pulmonary venous return anomaly
- MedGen UID: 1648157
- Concept ID: C4551903
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Congenital total pulmonary venous return anomaly
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