|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
3
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
4
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
5
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
6
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
|
7
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
8
|
(HPO:0000592)
|
Blue sclerae |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 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:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
14
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
15
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
16
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
17
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
18
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
19
|
(HPO:0001362)
|
Calvarial skull defect |
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
21
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
22
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
23
|
(HPO:0002879)
|
Anisospondyly |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
25
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
|
|
20 / 7739
|
|
26
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
27
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
28
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
29
|
(OMIM)
|
Occipital skull defect |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Two vessel cord |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Chondroosseous morphology notable for short, irregular chondrocyte columns, large, unfused calcospherites, perichondral bone overgrowth and patchy, mucoid degeneration of resting cartilage |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Dyssegmental dysplasia |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Short, bent long bones |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
35
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
36
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
37
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
38
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|