AICARDI-GOUTIERES SYNDROME 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
7
|
0.700 |
None |
1.000 |
8 |
7
|
2006 |
2018 |
Cerebrospinal fluid lymphocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Laboratory or Test Result
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF interferon alpha
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic CSF lymphocytosis
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Increased serum interferon-gamma level
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Degeneration of the striatum
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Multifocal cerebral white matter abnormalities
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Moyamoya phenomenon
|
disease |
|
Disease or Syndrome
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Extrapyramidal muscular rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Chilblains
|
disease |
Wounds and Injuries
|
Disease or Syndrome
|
12
|
4
|
0.100 |
None |
|
0 |
|
|
|
Large beaked nose
|
disease |
|
Anatomical Abnormality
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Unexplained fevers
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
|
|
|
Calcification of the aorta
|
phenotype |
|
Pathologic Function
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Acrocyanosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
5
|
0.100 |
None |
|
0 |
|
|
|
Death in childhood
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Coloboma of eyelid
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Porencephalic cyst
|
disease |
|
Disease or Syndrome
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Neonatal Alloimmune Thrombocytopenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Glaucoma of childhood
|
disease |
Eye Diseases
|
Disease or Syndrome
|
30
|
15
|
0.100 |
None |
|
0 |
|
|
|
Acquired porencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
Arhinencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Panniculitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Loss of speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Enchondroma
|
disease |
Neoplasms
|
Neoplastic Process
|
41
|
13
|
0.100 |
None |
|
0 |
|
|
|