|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
9
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
10
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
11
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
13
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
14
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
15
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
16
|
(HPO:0001187)
|
Hyperextensibility of the finger joints |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
20
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
21
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
22
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
23
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
24
|
(HPO:0001847)
|
Long hallux |
|
|
|
|
13 / 7739
|
|
25
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
26
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
27
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
28
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
29
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
30
|
(HPO:0004283)
|
Narrow palm |
|
|
|
|
8 / 7739
|
|
31
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
32
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
33
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
34
|
(HPO:0011302)
|
Long palm |
|
|
|
|
70 / 7739
|
|
35
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
|
36
|
(OMIM)
|
Thin body build |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Asymmetric dysplastic ears |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
|
39
|
(OMIM)
|
Slanted palpebral fissures |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Small upper lip |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Overcrowded teeth |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Short, webbed neck |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Long thin hands (rare) |
|
|
|
|
3 / 7739
|
|
44
|
(OMIM)
|
Long, hyperextensible fingers |
|
|
|
|
2 / 7739
|
|
45
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
46
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
47
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
48
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|