Elevated circulating follicle stimulating hormone level
phenotype
Finding
26
0.100
None
0
Sensory neuropathy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
116
15
0.100
None
0
Bifid scrotum
disease
Congenital Abnormality
30
2
0.100
None
0
1
Skeletal muscle atrophy
phenotype
Pathologic Function
306
12
0.100
None
0
Hypospadias 1, X-Linked
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
1
3
0.600
None
0
3
Gait abnormality
group
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
312
23
0.100
None
0
Gait Disturbance, CTCAE
phenotype
Finding
299
0.100
None
0
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.100
None
0
Somatic mutation
phenotype
Cell or Molecular Dysfunction
151
0.100
None
0
Muscular fasciculation
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
99
2
0.100
None
0
Calf muscle hypertrophy
phenotype
Finding
46
5
0.100
None
0
Hypospadias, perineal
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Congenital Abnormality
8
15
0.100
None
0
1
Muscle weakness of limb
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
42
3
0.100
None
0
Peripheral Nervous System Diseases
group
Nervous System Diseases
Disease or Syndrome
549
69
0.100
None
0
Gonadal neoplasm
disease
Neoplastic Process
1
0.100
None
0
Bulbar palsy
disease
Nervous System Diseases
Disease or Syndrome
48
5
0.100
None
0
Sparse axillary hair
phenotype
Finding
39
0.100
None
0
Hernia, Inguinal
phenotype
Pathological Conditions, Signs and Symptoms
Anatomical Abnormality
225
21
0.100
None
0
Atrophy, Muscular, Spinobulbar
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
1
0.300
None
0
Absent pubic hair
phenotype
Finding
3
1
0.100
None
0
1
Absent axillary hair
phenotype
Finding
7
1
0.100
None
0
1
Decreased fertility
phenotype
Finding
50
0.100
None
0
Androgen-Insensitivity Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Disease or Syndrome
247
176
1.000
None
0.966
265
105
1970
2019
Testicular Feminization
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Disease or Syndrome
24
7
0.600
None
0.955
134
6
1970
2019
Male Pseudohermaphroditism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
50
4
0.200
None
1.000
12
1979
2010