Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Posterior subcapsular cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
67
|
9
|
0.100 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Broad thumbs
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|
Myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
490
|
167
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.100 |
None |
|
0 |
|
|
|
Truncus Arteriosus, Persistent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
76
|
4
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
0.100 |
None |
|
0 |
|
|
|
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.100 |
None |
|
0 |
|
|
|
Bicuspid aortic valve
|
disease |
Cardiovascular Diseases
|
Congenital Abnormality
|
154
|
23
|
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 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Corneal Opacity
|
phenotype |
Eye Diseases
|
Finding
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
Aortic coarctation
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
88
|
6
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.100 |
None |
|
0 |
|
|
|
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Broad hallux
|
phenotype |
|
Finding
|
48
|
14
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
113
|
25
|
0.100 |
None |
|
0 |
|
|
|
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lens Opacities
|
phenotype |
Eye Diseases
|
Finding
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
1998 |
1998 |