|
1
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
4
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
6
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
8
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
11
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
13
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
15
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
16
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
18
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
19
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
20
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
21
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
22
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
|
23
|
(HPO:0000907)
|
Anterior rib cupping |
|
|
|
|
12 / 7739
|
|
24
|
(HPO:0000947)
|
Dumbbell-shaped long bone |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
26
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
27
|
(HPO:0001800)
|
Hypoplastic toenails |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
28
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
29
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
30
|
(HPO:0003300)
|
Ovoid vertebral bodies |
|
|
|
|
21 / 7739
|
|
31
|
(HPO:0008108)
|
Advanced tarsal ossification |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
33
|
(OMIM)
|
Short, splayed ribs |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Sacral stenosis |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Snail-shaped ilia |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Dumbbell-shaped short long bones |
|
|
|
|
1 / 7739
|
|
37
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
38
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
40
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
41
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
42
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|
|
45
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|