|
1
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
5
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
7
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
8
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
9
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0010665)
|
Bilateral coxa valga |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
13
|
(OMIM)
|
Metopic ridge, small |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Retrognathia, mild |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Tubular nose |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Mild pectus excavatum |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Hyperextensibility of large joints |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Bilateral contractures, most severe in right third and fourth fingers |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Bilateral contractures of toes, more severe on right side |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Bilateral pes planus |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Subcutaneous fat markedly reduced |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Decreased strength |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Congenital hypotonia, mild |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Delay of gross motor function |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
27
|
(HPO:0000098)
|
Tall stature |
|
|
|
|
74 / 7739
|
|
28
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
29
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
30
|
(HPO:0000248)
|
Brachycephaly |
rare [HPO:skoehler]
|
|
|
|
222 / 7739
|
|
31
|
(HPO:0000268)
|
Dolichocephaly |
rare [HPO:skoehler]
|
|
|
|
144 / 7739
|
|
32
|
(HPO:0000276)
|
Long face |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
33
|
(HPO:0000283)
|
Broad face |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
34
|
(HPO:0000319)
|
Smooth philtrum |
rare [HPO:skoehler]
|
|
|
|
72 / 7739
|
|
35
|
(HPO:0000494)
|
Downslanted palpebral fissures |
rare [HPO:skoehler]
|
|
|
|
328 / 7739
|
|
36
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
37
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
38
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
39
|
(HPO:0000978)
|
Bruising susceptibility |
rare [HPO:skoehler]
|
|
|
|
123 / 7739
|
|
40
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
41
|
(HPO:0001270)
|
Motor delay |
rare [HPO:skoehler]
|
|
|
|
322 / 7739
|
|
42
|
(HPO:0001342)
|
Cerebral hemorrhage |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
43
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
44
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
45
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
|
46
|
(HPO:0001655)
|
Patent foramen ovale |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
47
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
|
48
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
49
|
(HPO:0002036)
|
Hiatus hernia |
|
|
|
|
24 / 7739
|
|
50
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
51
|
(HPO:0003302)
|
Spondylolisthesis |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
52
|
(HPO:0010646)
|
Cervical spine instability |
rare [HPO:skoehler]
|
|
|
|
2 / 7739
|
|
53
|
(HPO:0011800)
|
Midface retrusion |
rare [HPO:skoehler]
|
|
|
|
221 / 7739
|
|
54
|
(HPO:0012771)
|
Increased arm span |
|
|
|
|
1 / 7739
|