Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Basal ganglion calcification
Always present (100%)HP:0002135
Cerebellar calcifications
Always present (100%)HP:0007352
CSF lymphocytic pleiocytosis
Always present (100%)HP:0200149
Demyelination in central white matter
Always present (100%)HP:0007305
Erythema
Always present (100%)HP:0010783
Inability to walk
Always present (100%)HP:0002540
Inflammation of blood vessel
Always present (100%)HP:0002633
Intracerebral periventricular calcifications
Always present (100%)HP:0007229
No speech development
Always present (100%)HP:0001344
Petechiae
Always present (100%)HP:0000967
Self-mutilation
Always present (100%)HP:0000742
Arrhinencephaly
Very frequent (80-99%)HP:0002139
Cavity within brain
Very frequent (80-99%)HP:0002132
Cognitive delay
Very frequent (80-99%)HP:0001263
Hypertonia
Very frequent (80-99%)HP:0001276
Intellectual disability, profound
Very frequent (80-99%)HP:0002187
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Multifocal cerebral white matter abnormalities
Very frequent (80-99%)HP:0007052
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Abnormal liver function tests
Frequent (30-79%)HP:0002910
Autoimmunity
Frequent (30-79%)HP:0002960
Brain wasting
Frequent (30-79%)HP:0012444
Chilblain lesions
Frequent (30-79%)HP:0009710
Chronic cerebrospinal fluid lymphocytosis
Frequent (30-79%)HP:0009704
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Dry skin
Frequent (30-79%)HP:0000958
Dystonic movements
Frequent (30-79%)HP:0001332
Enlarged liver
Frequent (30-79%)HP:0002240
Related Conditions
Aicardi Goutieres syndrome type 1(child)
Aicardi Goutieres syndrome type 2(child)
Aicardi Goutieres syndrome type 3(child)
Aicardi Goutieres syndrome type 4(child)
Aicardi Goutieres syndrome type 5(child)
Basal ganglia degeneration with calcification(parent)
Leucodystrophy(parent)
Hereditary degenerative disease of central nervous system(parent)
Autosomal hereditary disorder(parent)
Type I interferonopathy(parent)
Hereditary disorder of immune system(parent)
Quick Facts
- SNOMED CT
- 230312006
- UMLS CUI
- C0393591
- Fully Specified Name
- Aicardi Goutieres syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.