Progressive clavicular acroosteolysis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Increased intraabdominal fat
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased HDL cholesterol concentration
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Intracranial Hemorrhage
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Pathologic Function
|
40
|
2
|
0.100 |
None |
|
0 |
|
|
|
Increased intramuscular fat
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Prothrombin time increased
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Prolonged QT interval
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
38
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Loss of truncal subcutaneous adipose tissue
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Labial pseudohypertrophy
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Macrotia
|
disease |
|
Congenital Abnormality
|
188
|
18
|
0.100 |
None |
|
0 |
|
|
|
Premature Birth
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
192
|
50
|
0.100 |
None |
|
0 |
|
|
|
Atrophic condition of skin
|
group |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
111
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Narrow face
|
phenotype |
|
Finding
|
87
|
6
|
0.100 |
None |
|
0 |
|
|
|
Prominent forehead
|
phenotype |
|
Finding
|
159
|
25
|
0.100 |
None |
|
0 |
|
|
|
Hyperphosphatemia (disorder)
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
65
|
1
|
0.100 |
None |
|
0 |
|
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
5
|
71
|
0.100 |
None |
|
0 |
2
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Proximal lower limb amyotrophy
|
phenotype |
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Dermal translucency
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Distal lower limb amyotrophy
|
disease |
|
Disease or Syndrome
|
29
|
8
|
0.100 |
None |
|
0 |
|
|
|
Cranial nerve palsies
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
1
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hyporeflexia of lower limbs
|
phenotype |
|
Finding
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|