Generalized hirsutism
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
113
|
3
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Increased fracture rate
|
phenotype |
|
Finding
|
123
|
|
0.100 |
None |
|
0 |
|
|
|
Avascular necrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal fear/anxiety-related behavior
|
disease |
|
Mental or Behavioral Dysfunction
|
5
|
7
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating ACTH level
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Telangiectasia of the skin
|
phenotype |
Cardiovascular Diseases
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Psychotic mentation
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Truncal obesity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Finding
|
38
|
4
|
0.100 |
None |
|
0 |
|
|
|
Avascular Necrosis, CTCAE
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vision
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
115
|
6
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Unspecified visual loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Sign or Symptom
|
235
|
11
|
0.100 |
None |
|
0 |
|
|
|
Poor wound healing
|
phenotype |
|
Finding
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 1
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
161
|
34
|
0.100 |
None |
|
0 |
|
|
|
Recurrent skin infections
|
phenotype |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Biconcave vertebral bodies
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 4
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 6
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 7
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
127
|
8
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 8
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
126
|
8
|
0.100 |
None |
|
0 |
|
|
|
MAJOR AFFECTIVE DISORDER 9
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
126
|
8
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|