|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0100540)
|
Palpebral edema |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000153)
|
Abnormality of the mouth |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
6
|
(HPO:0005989)
|
Redundant neck skin |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
9
|
(HPO:0100625)
|
Enlarged thorax |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
13
|
(HPO:0005107)
|
Abnormality of the sacrum |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
14
|
(OMIM)
|
Pyknoachondrogenesis |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
|
16
|
(OMIM)
|
Severe bone sclerosis |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
18
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
19
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|