|
1
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
6
|
(HPO:0000592)
|
Blue sclerae |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
9
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
10
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0002816)
|
Genu recurvatum |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
14
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
15
|
(HPO:0002999)
|
Patellar dislocation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
16
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
20
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
|
|
|
|
14 / 7739
|
|
21
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
22
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
23
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
24
|
(HPO:0001591)
|
Bell-shaped thorax |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
25
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
26
|
(HPO:0200055)
|
Small hand |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
27
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
32
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
33
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
34
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
35
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
36
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
37
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
38
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
39
|
(HPO:0001087)
|
Congenital glaucoma |
|
|
|
|
12 / 7739
|
|
40
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
41
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
42
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
43
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
44
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
45
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
46
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
47
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
|
48
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
49
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
50
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
|
51
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
52
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
53
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
54
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
55
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
|
56
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
57
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
58
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
59
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
60
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
61
|
(HPO:0005067)
|
Proximal fibular overgrowth |
|
|
|
|
3 / 7739
|
|
62
|
(HPO:0006243)
|
Phalangeal dislocation |
|
|
|
|
3 / 7739
|
|
63
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
|
64
|
(HPO:0006439)
|
Radioulnar dislocation |
|
|
|
|
3 / 7739
|
|
65
|
(HPO:0008082)
|
Medial deviation of the foot |
|
|
|
|
2 / 7739
|
|
66
|
(HPO:0008108)
|
Advanced tarsal ossification |
|
|
|
|
4 / 7739
|
|
67
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
68
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
|
|
|
|
15 / 7739
|
|
69
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
|
70
|
(HPO:0010068)
|
Broad first metatarsal |
|
|
|
|
3 / 7739
|
|
71
|
(HPO:0010097)
|
Partial duplication of the distal phalanx of the hallux |
|
|
|
|
2 / 7739
|
|
72
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
73
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
74
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|