Brain calcification Rajab type
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
10
|
0.700 |
None |
1.000 |
3 |
10
|
2018 |
2018 |
Lung Diseases, Interstitial
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
144
|
0.420 |
None |
1.000 |
2 |
|
2018 |
2019 |
Cerebral calcification
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
103
|
8
|
0.400 |
None |
1.000 |
1 |
5
|
2018 |
2018 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.400 |
None |
1.000 |
1 |
|
2018 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
82
|
5
|
0.100 |
None |
|
0 |
|
|
|
Bile duct proliferation
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypoalbuminemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
107
|
9
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Small scrotum
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
INTERSTITIAL LUNG AND LIVER DISEASE
|
disease |
|
Disease or Syndrome
|
3
|
9
|
0.100 |
None |
|
0 |
2
|
|
|
Specific learning disability
|
disease |
|
Mental or Behavioral Dysfunction
|
165
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the liver
|
phenotype |
|
Finding
|
75
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Slender build
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
1
|
|
|
Thin bony cortex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|