1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
2
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
3
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
4
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
8
|
(HPO:0008734)
|
Decreased testicular size |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
9
|
(HPO:0000771)
|
Gynecomastia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
10
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
11
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
12
|
(HPO:0000574)
|
Thick eyebrow |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
13
|
(HPO:0001769)
|
Broad foot |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
14
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
15
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
17
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
18
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
19
|
(HPO:0009748)
|
Large earlobe |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
20
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
21
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
22
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
23
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
24
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
25
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
26
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
27
|
(HPO:0001956)
|
Truncal obesity |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
28
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
29
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
30
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
31
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
32
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
33
|
(HPO:0001836)
|
Camptodactyly of toe |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
34
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
35
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
36
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
37
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
38
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
39
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
40
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
41
|
(HPO:0006110)
|
Shortening of all middle phalanges of the fingers |
|
|
|
|
7 / 7739
|
42
|
(HPO:0006118)
|
Shortening of all distal phalanges of the fingers |
|
|
|
|
3 / 7739
|
43
|
(HPO:0008094)
|
Widely spaced toes |
|
|
|
|
2 / 7739
|
44
|
(HPO:0008445)
|
Cervical spinal canal stenosis |
|
|
|
|
3 / 7739
|
45
|
(HPO:0008478)
|
Scheuermann-like vertebral changes |
|
|
|
|
1 / 7739
|
46
|
(HPO:0008687)
|
Hypoplasia of the prostate |
|
|
|
|
1 / 7739
|
47
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
48
|
(OMIM)
|
Moderate obesity |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Gynecomastia, postpubertal |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Small atrophic testes |
|
|
|
|
2 / 7739
|
51
|
(OMIM)
|
Mild scoliosis |
|
|
|
|
7 / 7739
|
52
|
(OMIM)
|
Hypoplastic distal and middle phalanges |
|
|
|
|
3 / 7739
|
53
|
(OMIM)
|
Soft, fleshy hands |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Widely spaced and flexed toes |
|
|
|
|
1 / 7739
|
55
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
56
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
57
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
58
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
59
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
60
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
61
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
62
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|