Bone marrow failure syndrome 6
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormal cellular phenotype
- Short telomere length
Short telomere length
- MedGen UID: 1627435
- Concept ID: C4531138
- Finding: Anatomical Abnormality
Abnormal cellular phenotype
- Short telomere length
- 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
- Bone marrow hypocellularity
Bone marrow hypocellularity
- MedGen UID: 383749
- Concept ID: C1855710
- Finding: Finding
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
- Persistence of hemoglobin F
Persistence of hemoglobin F
- MedGen UID: 68693
- Concept ID: C0239941
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of the digestive system
- Squamous cell carcinoma of the tongue
Squamous cell carcinoma of the tongue
- MedGen UID: 91153
- Concept ID: C0349566
- Finding: Neoplastic Process
Abnormality of the digestive system
- Squamous cell carcinoma of the tongue
- Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
- Abnormality of the immune system
- Lymphopenia
Lymphopenia
- MedGen UID: 7418
- Concept ID: C0024312
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Lymphopenia
- Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteopenia
- Abnormality of the respiratory system
- Recurrent sinusitis
Recurrent sinusitis
- MedGen UID: 107919
- Concept ID: C0581354
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent sinusitis
- Constitutional symptom
- Chronic fatigue
Chronic fatigue
- MedGen UID: 760077
- Concept ID: C0518656
- Finding: Finding
Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Chronic fatigue
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