RIDDLE syndrome
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (17 available)
Clinical features
Help- Abnormal cellular phenotype
- Increased sensitivity to ionizing radiation
Increased sensitivity to ionizing radiation
- MedGen UID: 867472
- Concept ID: C4021850
- Finding: Finding
Abnormal cellular phenotype
- Increased sensitivity to ionizing radiation
- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Abnormal facial shape
- Abnormality of the immune system
- Decreased circulating IgG level
Decreased circulating IgG level
- MedGen UID: 1720114
- Concept ID: C5234937
- Finding: Finding
Abnormality of the immune system
- Immunodeficiency
Immunodeficiency
- MedGen UID: 7034
- Concept ID: C0021051
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgG level
- Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Dry skin
- Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Mild global developmental delay
Mild global developmental delay
- MedGen UID: 861405
- Concept ID: C4012968
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
- Abnormality of the respiratory system
- Pulmonary fibrosis
Pulmonary fibrosis
- MedGen UID: 11028
- Concept ID: C0034069
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Pulmonary fibrosis
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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