Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
12
|
65
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Rhizomelia
|
disease |
|
Congenital Abnormality
|
57
|
6
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Round face
|
phenotype |
|
Finding
|
88
|
3
|
0.100 |
None |
|
0 |
|
|
|
Late fontanel closure
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Protrusio acetabuli
|
disease |
|
Anatomical Abnormality
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Wide cranial sutures
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Narrow thorax
|
phenotype |
|
Finding
|
112
|
18
|
0.100 |
None |
|
0 |
|
|
|
Decreased calvarial ossification
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
|
|
|
Multiple prenatal fractures
|
phenotype |
|
Finding
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Death in infancy
|
phenotype |
|
Finding
|
146
|
7
|
0.100 |
None |
|
0 |
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Wide anterior fontanel
|
phenotype |
|
Finding
|
71
|
5
|
0.100 |
None |
|
0 |
|
|
|
Externally rotated/abducted legs
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Crumpled long bones
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic pulmonary veins
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Increased fracture rate
|
phenotype |
|
Finding
|
123
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Depressive Symptoms
|
phenotype |
Behavior and Behavior Mechanisms
|
Sign or Symptom
|
421
|
120
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Cole Carpenter syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
|
|
|
Micromelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
104
|
1
|
0.100 |
None |
|
0 |
|
|
|
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
30
|
12
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mucopolysaccharidosis IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
28
|
9
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2010 |