1
|
(HPO:0003298)
|
Spina bifida occulta |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
6
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
7
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
8
|
(HPO:0001789)
|
Hydrops fetalis |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
9
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
10
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
11
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
12
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
13
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
14
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
15
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
16
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
17
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
18
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
19
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
20
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
22
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
23
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
24
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
25
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
26
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
27
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
28
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
29
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
30
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
31
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
32
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
33
|
(HPO:0000941)
|
Short diaphyses |
|
|
|
|
3 / 7739
|
34
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
35
|
(HPO:0000947)
|
Dumbbell-shaped long bone |
|
|
|
|
5 / 7739
|
36
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
37
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
38
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
39
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
40
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
41
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
42
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
43
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
44
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
45
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
46
|
(HPO:0008479)
|
Hypoplastic vertebral bodies |
|
|
|
|
12 / 7739
|
47
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
48
|
(HPO:0008909)
|
Lethal short-limbed short stature |
|
|
|
|
4 / 7739
|
49
|
(HPO:0011039)
|
Abnormality of the helix |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
50
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
51
|
(OMIM)
|
Wide anterior ribs |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Enlarged chondrocytes |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Matrix degeneration with large aggregated collagen fibers |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Vertical ischia |
|
|
|
|
2 / 7739
|
55
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
56
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
57
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
58
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
59
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
60
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
61
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
62
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
63
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
64
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
65
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|