1
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
3
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
4
|
(HPO:0001761)
|
Pes cavus |
Frequent [Orphanet]
|
|
|
|
225 / 7739
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
6
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
7
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
9
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
10
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
11
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
|
|
200 / 7739
|
12
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
13
|
(HPO:0000956)
|
Acanthosis nigricans |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
14
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
17
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
18
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
19
|
(HPO:0004326)
|
Cachexia |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
20
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
21
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
23
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
24
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
25
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
26
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
27
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
28
|
(HPO:0000720)
|
Mood swings |
|
|
|
|
6 / 7739
|
29
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
30
|
(HPO:0000771)
|
Gynecomastia |
|
|
|
|
53 / 7739
|
31
|
(HPO:0001065)
|
Striae distensae |
|
|
|
|
26 / 7739
|
32
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
33
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
34
|
(HPO:0001956)
|
Truncal obesity |
|
|
|
|
39 / 7739
|
35
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
36
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
37
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
38
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Occasional [Orphanet]
|
|
|
|
148 / 7739
|
39
|
(OMIM)
|
Birthweight (<10th percentile) |
|
|
|
|
1 / 7739
|
40
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
41
|
(OMIM)
|
Wide sandal gap |
|
|
|
|
2 / 7739
|
42
|
(OMIM)
|
Wasted lower leg muscles |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Severe speech delay |
|
|
|
|
4 / 7739
|
44
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
45
|
(OMIM)
|
Decreased fine motor coordination |
|
|
|
|
1 / 7739
|
46
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
47
|
(OMIM)
|
Aggressive outbursts |
|
|
|
|
3 / 7739
|
48
|
(OMIM)
|
Decreased attention span |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Impaired/absent speech |
|
|
|
|
1 / 7739
|
50
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
51
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
52
|
(HPO:0001357)
|
Plagiocephaly |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
53
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
54
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
55
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
56
|
(HPO:0001156)
|
Brachydactyly syndrome |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
57
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
58
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
59
|
(HPO:0012743)
|
Abdominal obesity |
|
|
|
|
6 / 7739
|