Aicardi-Goutieres syndrome 6
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:
- Yanick J Crow
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (46 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Hemolytic anemia
Hemolytic anemia
- MedGen UID: 1916
- Concept ID: C0002878
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Hemolytic anemia
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
- Abnormality of the immune system
- Chilblains
Chilblains
- MedGen UID: 886
- Concept ID: C0008058
- Finding: Injury or Poisoning
Abnormality of the immune system
- Increased circulating Interferon-alpha concentration
Increased circulating Interferon-alpha concentration
- MedGen UID: 1842154
- Concept ID: C5826443
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Chilblains
- Abnormality of the musculoskeletal system
- Cerebral calcification
Cerebral calcification
- MedGen UID: 124360
- Concept ID: C0270685
- Finding: Finding
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Cerebral calcification
- Abnormality of the nervous system
- CSF pleocytosis
CSF pleocytosis
- MedGen UID: 56247
- Concept ID: C0151857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Increased CSF interferon alpha
Increased CSF interferon alpha
- MedGen UID: 341667
- Concept ID: C1856983
- Finding: Finding
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Leukodystrophy
Leukodystrophy
- MedGen UID: 6070
- Concept ID: C0023520
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Loss of ambulation
Loss of ambulation
- MedGen UID: 332305
- Concept ID: C1836843
- Finding: Finding
Abnormality of the nervous system
- Loss of speech
Loss of speech
- MedGen UID: 107445
- Concept ID: C0542223
- Finding: Finding
Abnormality of the nervous system
- Severe global developmental delay
Severe global developmental delay
- MedGen UID: 332436
- Concept ID: C1837397
- Finding: Finding
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- CSF pleocytosis
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Fetal growth restriction
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