|
1
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0000921)
|
Missing ribs |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
3
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
4
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
6
|
(HPO:0002475)
|
Myelomeningocele |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
10
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
13
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
14
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
15
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
16
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
17
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
18
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
20
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
21
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
22
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
23
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
24
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
25
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
26
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
27
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
28
|
(HPO:0001804)
|
Hypoplastic fingernail |
|
|
|
|
62 / 7739
|
|
29
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
30
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
31
|
(HPO:0002779)
|
Tracheomalacia |
|
|
|
|
26 / 7739
|
|
32
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
33
|
(HPO:0003275)
|
Narrow pelvis bone |
|
|
|
|
8 / 7739
|
|
34
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
35
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
36
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
37
|
(HPO:0006615)
|
Absent in utero rib ossification |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0008435)
|
Absent in utero ossification of vertebral bodies |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0008643)
|
Nephroblastomatosis |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0100880)
|
Nephrogenic rest |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0200133)
|
Lumbosacral meningocele |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Respiratory distress/insufficiency |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Posterior gaps in ribs |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Ribbon-like ribs |
|
|
|
|
3 / 7739
|
|
45
|
(OMIM)
|
Trilobed liver |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Intralobular nephrogenic rests |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Zipper-like pedicles |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Delayed ossification of pedicles |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Unossified sacrum |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0004606)
|
Unossified vertebral bodies |
|
|
|
|
4 / 7739
|
|
51
|
(OMIM)
|
Absent in utero ossification of pedicles |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Downward tilt of pubic rami |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
54
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
55
|
(OMIM)
|
Nuchal translucency |
|
|
|
|
2 / 7739
|
|
56
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
57
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
58
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
59
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
60
|
(HPO:0010880)
|
Increased nuchal translucency |
|
|
|
|
13 / 7739
|
|
61
|
(HPO:0030290)
|
Unossified sacrum |
|
|
|
|
1 / 7739
|
|
62
|
(HPO:0100752)
|
Abnormal liver lobulation |
|
|
|
|
2 / 7739
|