1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
6
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
7
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
8
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
10
|
(HPO:0000465)
|
Webbed neck |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
11
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
12
|
(HPO:0100759)
|
Clubbing of fingers |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
13
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
14
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
15
|
(HPO:0009623)
|
Proximal placement of thumb |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
16
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
18
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
19
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
20
|
(HPO:0000537)
|
Epicanthus inversus |
|
|
|
|
7 / 7739
|
21
|
(HPO:0007514)
|
Edema of the dorsum of hands |
|
|
|
|
7 / 7739
|
22
|
(HPO:0009836)
|
Broad distal phalanx of finger |
|
|
|
|
8 / 7739
|
23
|
(HPO:0012098)
|
Edema of the dorsum of feet |
|
|
|
|
3 / 7739
|
24
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
25
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
26
|
(OMIM)
|
Edema of the dorsum of hands and feet |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Proximally displaced small thumbs |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Widened interphalangeal joints |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Angulated eyebrows |
|
|
|
|
1 / 7739
|
30
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
31
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|