Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Decreased muscle mass
|
phenotype |
|
Finding
|
65
|
12
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal tip
|
phenotype |
|
Finding
|
13
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Astigmatism
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
45
|
0.100 |
None |
|
0 |
1
|
|
|
Highly arched eyebrow
|
phenotype |
|
Finding
|
141
|
14
|
0.100 |
None |
|
0 |
|
|
|
Adducted thumb
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
74
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
1
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Fissured tongue
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
36
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Round face
|
phenotype |
|
Finding
|
88
|
3
|
0.100 |
None |
|
0 |
|
|
|
Bulbous nose
|
phenotype |
|
Finding
|
123
|
13
|
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 |
1
|
|
|
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.030 |
None |
1.000 |
3 |
1
|
2013 |
2015 |
Contracture of joint of hand
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
55
|
5
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Childhood Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2420
|
231
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Refractive Errors
|
group |
Eye Diseases
|
Disease or Syndrome
|
71
|
75
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Centronuclear myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
13
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |