Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Electromyogram abnormal
|
phenotype |
|
Finding
|
130
|
12
|
0.100 |
None |
|
0 |
|
|
|
Lipoatrophy
|
disease |
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
106
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ketotic hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent urinary tract infection
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
237
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hypernatriuria
|
disease |
|
Disease or Syndrome
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Tall stature
|
phenotype |
|
Finding
|
79
|
14
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
73
|
11
|
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 |
|
|
|
Hypotension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
125
|
2
|
0.100 |
None |
|
0 |
|
|
|
Anorexia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
242
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating dehydroepiandrosterone level
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital Hypothyroidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
94
|
48
|
0.100 |
None |
|
0 |
|
|
|
Constipation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
424
|
57
|
0.100 |
None |
|
0 |
|
|
|
Testicular adrenal rest tumor
|
disease |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal response to ACTH stimulation test
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Impaired cortisol response to insulin stimulation test
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.100 |
None |
|
0 |
|
|
|
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|