Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Femoral bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
38
|
13
|
0.100 |
None |
|
0 |
|
|
|
Small abnormally formed scapulae
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased serum testosterone level
|
phenotype |
|
Finding
|
47
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Upper airway obstruction
|
disease |
|
Finding
|
16
|
3
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of male internal genitalia
|
disease |
|
Anatomical Abnormality
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the scrotum
|
disease |
|
Anatomical Abnormality
|
13
|
2
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sex determination
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.100 |
None |
|
0 |
|
|
|
Bifid scrotum
|
disease |
|
Congenital Abnormality
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Primary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Absence of secondary sex characteristics
|
phenotype |
|
Finding
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Tracheobronchomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
High forehead
|
phenotype |
|
Finding
|
211
|
17
|
0.100 |
None |
|
0 |
|
|
|
Elevated circulating follicle stimulating hormone level
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Low serum estradiol levels
|
phenotype |
|
Finding
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Small testicle
|
phenotype |
|
Finding
|
129
|
|
0.100 |
None |
|
0 |
|
|
|
Laryngomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
67
|
18
|
0.100 |
None |
|
0 |
|
|
|
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Streak ovary
|
disease |
|
Congenital Abnormality
|
21
|
|
0.100 |
None |
|
0 |
|
|
|