Thin skin
|
phenotype |
|
Finding
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Shagreen patch
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
|
Congenital Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the tongue
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
|
|
|
Blue sclera
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
70
|
13
|
0.100 |
None |
|
0 |
|
|
|
Deformity of spine
|
disease |
|
Anatomical Abnormality
|
58
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Long thorax
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm of ascending aorta
|
phenotype |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
34
|
16
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Joint hyperflexibility
|
phenotype |
|
Finding
|
181
|
12
|
0.100 |
None |
|
0 |
|
|
|
Fragile skin
|
phenotype |
|
Finding
|
26
|
5
|
0.100 |
None |
|
0 |
|
|
|
Open Bite
|
phenotype |
Stomatognathic Diseases
|
Congenital Abnormality
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Generalized joint laxity
|
phenotype |
|
Finding
|
44
|
6
|
0.100 |
None |
|
0 |
|
|
|
Papule
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
76
|
131
|
0.100 |
None |
|
0 |
|
|
|
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Skin Papule
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
74
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital keratoglobus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
46
|
9
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.400 |
limited |
|
0 |
2
|
|
|
Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
113
|
25
|
0.100 |
None |
|
0 |
|
|
|
Hyperextensible skin
|
phenotype |
|
Finding
|
50
|
11
|
0.100 |
None |
|
0 |
1
|
|
|