|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Occasional [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0009756)
|
Popliteal pterygium |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
5
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
10
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
11
|
(HPO:0001789)
|
Hydrops fetalis |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
12
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
13
|
(HPO:0100240)
|
Synostosis of joints |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
15
|
(HPO:0000465)
|
Webbed neck |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
16
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
17
|
(HPO:0005257)
|
Thoracic hypoplasia |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
18
|
(HPO:0009775)
|
Amniotic constriction ring |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
20
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
21
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
22
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
23
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
24
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
25
|
(HPO:0000476)
|
Cystic hygroma |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
26
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
27
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
28
|
(HPO:0002047)
|
Malignant hyperthermia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
29
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
30
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
31
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
32
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
33
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
34
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
35
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
36
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
37
|
(HPO:0001040)
|
Multiple pterygia |
|
|
|
|
5 / 7739
|
|
38
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
|
39
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
40
|
(HPO:0001961)
|
Hypoplastic heart |
|
|
|
|
9 / 7739
|
|
41
|
(HPO:0001989)
|
Fetal akinesia sequence |
|
|
|
|
14 / 7739
|
|
42
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
43
|
(HPO:0002304)
|
Akinesia |
|
|
|
|
18 / 7739
|
|
44
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
45
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
46
|
(HPO:0003634)
|
Amyoplasia |
|
|
|
|
3 / 7739
|
|
47
|
(HPO:0005905)
|
Abnormal cervical curvature |
|
|
|
|
2 / 7739
|
|
48
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
49
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
50
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
51
|
(OMIM)
|
Jugular lymphatic obstruction sequence |
|
|
|
|
2 / 7739
|
|
52
|
(MedDRA:10017322)
|
Fractures |
|
|
|
|
18 / 7739
|
|
53
|
(MedDRA:10017076)
|
Fracture |
|
|
|
|
18 / 7739
|
|
54
|
(OMIM)
|
Congenital bone fusions |
|
|
|
|
2 / 7739
|
|
55
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
56
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
57
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
58
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
59
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
60
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
61
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
62
|
(OMIM)
|
Microbrachydactyly |
|
|
|
|
2 / 7739
|
|
63
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
64
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
65
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
66
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
67
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
68
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
69
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
70
|
(HPO:0002803)
|
Congenital contracture |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
71
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|