Sparse axillary hair
phenotype
Finding
39
0.100
None
0
X- linked recessive
phenotype
Finding
172
1
0.100
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
Muscular fasciculation
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
99
2
0.100
None
0
Sensory neuropathy
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
116
15
0.100
None
0
Erectile abnormalities
disease
Finding
24
0.100
None
0
Gait Disturbance, CTCAE
phenotype
Finding
299
0.100
None
0
Creatine phosphokinase serum increased
phenotype
Finding
228
43
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
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.100
None
0
Female Pseudohermaphroditism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
10
0.100
None
0
Skeletal muscle atrophy
phenotype
Pathologic Function
306
12
0.100
None
0
Somatic mutation
phenotype
Cell or Molecular Dysfunction
151
0.100
None
0
Decreased fertility
phenotype
Finding
50
0.100
None
0
Bulbar palsy
disease
Nervous System Diseases
Disease or Syndrome
48
5
0.100
None
0
Peripheral Nervous System Diseases
group
Nervous System Diseases
Disease or Syndrome
549
69
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
Abnormality of the rib cage
disease
Anatomical Abnormality
16
0.100
None
0
Elevated circulating luteinizing hormone level
phenotype
Finding
23
0.100
None
0
Uterus absent (finding)
phenotype
Finding
10
1
0.100
None
0
1
Aplasia/Hypoplasia of the fallopian tube
phenotype
Finding
2
0.100
None
0
Bulbar weakness
disease
Nervous System Diseases
Disease or Syndrome
3
1
0.010
None
1.000
1
1992
1992
pseudohermaphrodite (non-specific)
disease
Disease or Syndrome
9
2
0.010
None
1.000
1
1992
1992
Paresis
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
216
49
0.010
None
1.000
1
1992
1992