|
1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
4
|
(HPO:0100745)
|
Abnormality of the humeroulnar joint |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
5
|
(HPO:0003782)
|
Eunuchoid habitus |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
6
|
(HPO:0000921)
|
Missing ribs |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0000771)
|
Gynecomastia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
8
|
(HPO:0008734)
|
Decreased testicular size |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
9
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
10
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
11
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
14
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
15
|
(HPO:0005978)
|
Type II diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0002225)
|
Sparse pubic hair |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0000026)
|
Male hypogonadism |
|
|
|
|
20 / 7739
|
|
19
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
20
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
21
|
(HPO:0000833)
|
Glucose intolerance |
|
|
|
|
20 / 7739
|
|
22
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
|
23
|
(HPO:0003074)
|
Hyperglycemia |
|
|
|
|
37 / 7739
|
|
24
|
(HPO:0003319)
|
Abnormality of the cervical spine |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
26
|
(HPO:0005820)
|
Superior rib anomalies |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Testicular biopsy shows true germinal aplasia or complete seminiferous tubular fibrosis |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
30
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|