|
1
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0009465)
|
Ulnar deviation of finger |
Frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
6
|
(HPO:0002815)
|
Abnormality of the knee |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
7
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
8
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0001555)
|
Asymmetry of the thorax |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
16
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
18
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
|
19
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
20
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
21
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
22
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
23
|
(HPO:0002761)
|
Generalized joint laxity |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0003361)
|
Tryptophanuria |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
26
|
(OMIM)
|
Widespread joint pains |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Ulnar drift of fingers |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Adduction of thumbs |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Slight contractures of distal IP finger and thumb joints |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Defective vision |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Stuttering |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Aggressive outbursts |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Hypertryptophanemia |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
35
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
36
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
37
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
38
|
(HPO:0030214)
|
Hypersexuality |
|
|
|
|
2 / 7739
|