|
1
|
(HPO:0002149)
|
Hyperuricemia |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
3
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0009811)
|
Abnormality of the elbow |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0002777)
|
Tracheal stenosis |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
9
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
11
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
12
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
13
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
14
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
15
|
(HPO:0100818)
|
Long thorax |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0000483)
|
Astigmatism |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
17
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
18
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
19
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
20
|
(HPO:0009623)
|
Proximal placement of thumb |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
21
|
(HPO:0002645)
|
Wormian bones |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
|
22
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
24
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
25
|
(HPO:0000472)
|
Long neck |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
27
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
28
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
29
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
30
|
(HPO:0200021)
|
Down-sloping shoulders |
|
|
|
|
18 / 7739
|
|
31
|
(OMIM)
|
Abnormal thumb position |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10057689)
|
Acquired claw toe |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Growth long and narrow |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Prominent manubrium |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
|
36
|
(OMIM)
|
Elevated serum uric acid |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Reduced renal excrion of uric acid |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Pain, swelling, and redness of finger joints |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Prominent elbow joints |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Hip joint subluxation |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Hallux subluxation |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
45
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
46
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
47
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|