|
1
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0001528)
|
Hemihypertrophy |
obligate [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
3
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
5
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
6
|
(HPO:0002144)
|
Tethered cord |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0004099)
|
Macrodactyly |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0004437)
|
Cranial hyperostosis |
|
|
|
|
55 / 7739
|
|
10
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
rare [HPO:skoehler]
|
|
|
|
127 / 7739
|
|
11
|
(HPO:0010301)
|
Spinal dysraphism |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
12
|
(HPO:0012032)
|
Lipoma |
common [HPO:skoehler]
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0100559)
|
Lower limb asymmetry |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
|
14
|
(OMIM)
|
Prenatal overgrowth |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Vascular (arteriovenous) malformation, progressive, with cutaneous involvement |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Capillary malformation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lymphatic malformation (low flow) (most cases) |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10025532)
|
Malformation venous |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Perispinal vascular malformations, high-flow (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Venous thrombosis/embolism (rare) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Cysts in spleen |
|
|
|
|
1 / 7739
|
|
22
|
(MedDRA:10048872)
|
Testicular cyst |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hyperostosis of the skull |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Megaspondylodysplasia |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Chondromalacia patellae (rare) |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
27
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
28
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
29
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
30
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
31
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
32
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
33
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
34
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
35
|
(OMIM)
|
Palmar overgrowth |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Wide hands (most cases) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Windswept hand (rare) |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0100746)
|
Macrodactyly of finger |
|
|
|
|
5 / 7739
|
|
39
|
(HPO:0100747)
|
Macrodactyly of toe |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Plantar overgrowth |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Wide feet |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Furrowed sole |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Wide sandal gap |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Talipes deformities |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Linear epidermal nevus (in some patients) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Multiple small nevi (rare) |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Lipomas or lipomatous masses (most cases) |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Lipohypoplasia, regional |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Spasticity/paresis (rare) |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|