|
1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0005989)
|
Redundant neck skin |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
3
|
(HPO:0001789)
|
Hydrops fetalis |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
4
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
5
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
8
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
9
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
10
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
11
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
12
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
13
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
14
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
15
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
16
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0000476)
|
Cystic hygroma |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
|
19
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
20
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
21
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
22
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
23
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
24
|
(HPO:0001248)
|
Short tubular bones of the hand |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
26
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
27
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
28
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
29
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
30
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
31
|
(HPO:0004605)
|
Absent vertebral body mineralization |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0005622)
|
Broad long bones |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
34
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
35
|
(OMIM)
|
Dwarfism, marked micromelic |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Short, horizontal ribs |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Normal clavicles |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Enlarged calvaria with normal ossification |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Non-ossified sacrum, ischial, and pubic bones |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Small iliac wings with concave inferior and medial margin |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Very short, broad tubular bones |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Flared, cupped metaphyses |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Non-ossified talus and calcaneus |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Fetal hydrops |
|
|
|
|
15 / 7739
|
|
45
|
(OMIM)
|
Stillborn or death shortly after birth |
|
|
|
|
3 / 7739
|
|
46
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
47
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
48
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
49
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
50
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
51
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|