Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Erectile abnormalities
|
disease |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
59
|
|
0.100 |
None |
|
0 |
|
|
|
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.100 |
None |
|
0 |
|
|
|
Osteopenia
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
845
|
61
|
0.100 |
None |
|
0 |
|
|
|
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.100 |
None |
|
0 |
|
|
|
Increased female libido
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated circulating luteinizing hormone level
|
phenotype |
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Eunuchoid habitus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced bone mineral density
|
phenotype |
|
Finding
|
76
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypothalamic gonadotropin-releasing hormone deficiency
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Anterior hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Ptosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
607
|
12
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Female hypogonadism syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Acquired Camptodactyly
|
disease |
|
Acquired Abnormality
|
120
|
1
|
0.100 |
None |
|
0 |
|
|
|
Primary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Secondary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
58
|
2
|
0.100 |
None |
|
0 |
|
|
|
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
|
0 |
|
|
|