Aicardi-Goutieres syndrome 2
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 features
Help- Abnormality of the immune system
- Lymphocytosis
Lymphocytosis
- MedGen UID: 9834
- Concept ID: C0024282
- Finding: Disease or Syndrome
Abnormality of the immune system
- Lymphocytosis
- Abnormality of the musculoskeletal system
- Basal ganglia calcification
Basal ganglia calcification
- MedGen UID: 234651
- Concept ID: C1389280
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Basal ganglia calcification
- Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Chronic CSF lymphocytosis
Chronic CSF lymphocytosis
- MedGen UID: 869799
- Concept ID: C4024229
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spastic paraplegia
Spastic paraplegia
- MedGen UID: 20882
- Concept ID: C0037772
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.