Severe generalized osteoporosis
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Rhizomelia
|
disease |
|
Congenital Abnormality
|
57
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Craniofacial disproportion
|
phenotype |
|
Finding
|
9
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Periosteal thickening of long tubular bones
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased calvarial ossification
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Crumpled long bones
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Pneumothorax
|
phenotype |
Respiratory Tract Diseases
|
Disease or Syndrome
|
69
|
3
|
0.100 |
None |
|
0 |
|
|
|
Platybasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced bone mineral density
|
phenotype |
|
Finding
|
76
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Skin Ulcer
|
phenotype |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
151
|
1
|
0.100 |
None |
|
0 |
|
|
|
Wide anterior fontanel
|
phenotype |
|
Finding
|
71
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Joint laxity
|
phenotype |
Musculoskeletal Diseases
|
Pathologic Function
|
224
|
15
|
0.100 |
None |
|
0 |
|
|
|
Spina Bifida Occulta
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
76
|
6
|
0.100 |
None |
|
0 |
|
|
|
Femoral bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
38
|
13
|
0.100 |
None |
|
0 |
|
|
|
Venous Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cranial asymmetry
|
phenotype |
|
Finding
|
10
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Urticaria
|
disease |
Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
168
|
11
|
0.100 |
None |
|
0 |
|
|
|
Large fontanelle
|
phenotype |
|
Finding
|
77
|
3
|
0.100 |
None |
|
0 |
|
|
|
Erythema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
227
|
8
|
0.100 |
None |
|
0 |
|
|
|
Tricuspid Valve Prolapse
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
4
|
0.100 |
None |
|
0 |
|
|
|
Calvarial hyperostosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Premature osteoarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|