Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Frontal bossing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
321
|
22
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Osteomyelitis
|
disease |
Infections; Musculoskeletal Diseases
|
Disease or Syndrome
|
121
|
14
|
0.100 |
None |
|
0 |
|
|
|
Absent frontal sinuses
|
phenotype |
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.100 |
None |
|
0 |
|
|
|
Lordosis
|
phenotype |
Musculoskeletal Diseases
|
Disease or Syndrome
|
160
|
15
|
0.100 |
None |
|
0 |
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Narrow palate
|
phenotype |
|
Finding
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vertebral morphology
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Short toe
|
phenotype |
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pattern of respiration
|
phenotype |
|
Finding
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short distal phalanx of finger
|
phenotype |
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Narrow thorax
|
phenotype |
|
Finding
|
112
|
18
|
0.100 |
None |
|
0 |
|
|
|
Large nose
|
phenotype |
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Late tooth eruption
|
phenotype |
|
Finding
|
139
|
4
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Failure of exfoliation of primary tooth
|
phenotype |
|
Disease or Syndrome
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bone pain
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Sign or Symptom
|
139
|
|
0.100 |
None |
|
0 |
|
|
|
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
54
|
2
|
0.100 |
None |
|
0 |
|
|
|