|
1
|
(HPO:0000490)
|
Deeply set eye |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0000771)
|
Gynecomastia |
Frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
7
|
(HPO:0008734)
|
Decreased testicular size |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
8
|
(HPO:0000869)
|
Secondary amenorrhea |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0001956)
|
Truncal obesity |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
occasional [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
13
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
14
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
17
|
(HPO:0002225)
|
Sparse pubic hair |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0002231)
|
Sparse body hair |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
20
|
(HPO:0000837)
|
Increased circulating gonadotropin level |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
22
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
|
23
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
24
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0001773)
|
Short foot |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
26
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
27
|
(HPO:0005922)
|
Abnormal hand morphology |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0008209)
|
Premature ovarian failure |
occasional [HPO:skoehler]
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0008230)
|
Decreased testosterone in males |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Normal speech |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
32
|
(MedDRA:10043315)
|
Testicular failure |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Premature ovarian failure in female carriers |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Increased gonadotropins |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Low testosterone |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
37
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
40
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
41
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
42
|
(HPO:0012743)
|
Abdominal obesity |
|
|
|
|
6 / 7739
|
|
43
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|