Abnormality of the liver
|
phenotype |
|
Finding
|
75
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm
|
disease |
Cardiovascular Diseases
|
Pathologic Function
|
22
|
36
|
0.100 |
None |
|
0 |
5
|
|
|
Ascites
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
198
|
7
|
0.100 |
None |
|
0 |
|
|
|
Bile duct proliferation
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Brain calcification Rajab type
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1
|
10
|
0.700 |
None |
1.000 |
3 |
10
|
2018 |
2018 |
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 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Cerebral calcification
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
103
|
8
|
0.400 |
None |
1.000 |
1 |
5
|
2018 |
2018 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.100 |
None |
|
0 |
|
|
|
Coughing
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
235
|
16
|
0.100 |
None |
|
0 |
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Dilatation of the cerebral artery
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Anatomical Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties
|
phenotype |
|
Finding
|
473
|
62
|
0.100 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Headache
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
338
|
75
|
0.100 |
None |
|
0 |
|
|
|
Hernia, Inguinal
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
225
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hypoalbuminemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
107
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hypocalcemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
94
|
13
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|