LISSENCEPHALY 8
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
strong |
1.000 |
1 |
5
|
2016 |
2016 |
Delayed ability to walk
|
phenotype |
|
Finding
|
77
|
|
0.100 |
None |
|
0 |
|
|
|
Thin skin
|
phenotype |
|
Finding
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the brainstem
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dilated ventricles (finding)
|
phenotype |
|
Finding
|
427
|
32
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
278
|
19
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
377
|
8
|
0.100 |
None |
|
0 |
|
|
|
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.100 |
None |
|
0 |
|
|
|
Abnormal heart valve morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cobblestone Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
23
|
|
0.330 |
moderate |
1.000 |
3 |
|
2016 |
2020 |
Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.410 |
None |
1.000 |
1 |
|
2017 |
2017 |
Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
71
|
9
|
0.400 |
None |
|
0 |
|
|
|
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.100 |
None |
|
0 |
|
|
|
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.300 |
None |
|
0 |
|
|
|
Agyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
20
|
|
0.300 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Pyloric Stenosis
|
phenotype |
Digestive System Diseases
|
Pathologic Function
|
121
|
4
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.030 |
None |
1.000 |
3 |
|
2018 |
2020 |
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dry Eye Syndromes
|
disease |
Eye Diseases
|
Disease or Syndrome
|
156
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |