|
1
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
6
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
7
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
10
|
(HPO:0001187)
|
Hyperextensibility of the finger joints |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0001597)
|
Abnormality of the nail |
|
|
|
|
115 / 7739
|
|
13
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
14
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
|
|
308 / 7739
|
|
15
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0002694)
|
Sclerosis of skull base |
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
|
19
|
(HPO:0003037)
|
Enlarged joints |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
21
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
22
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
23
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
24
|
(OMIM)
|
Stubby fingers |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Lacy ossification of longbone metaphyses and iliac crests |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Spinal cord signs from subluxation of C2 |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Mild psychomotor retardation |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Severe kyphosis |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Mild thoracolumbar scoliosis |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Searching nystagmus |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Marked contractures of knees and hips |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Severe dwarfism |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Short fingernails |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
35
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|