|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
5
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0003100)
|
Slender long bone |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
8
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
9
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0000465)
|
Webbed neck |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0009775)
|
Amniotic constriction ring |
Frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
18
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
19
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0001560)
|
Abnormality of the amniotic fluid |
|
|
|
|
7 / 7739
|
|
21
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
22
|
(HPO:0004571)
|
Widening of cervical spinal canal |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
24
|
(HPO:0007277)
|
Paucity of anterior horn motor neurons |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0009004)
|
Hypoplasia of the musculature |
|
|
|
|
7 / 7739
|
|
26
|
(OMIM)
|
Thin fishbone-like ribs |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Generalized thinning of tubular bones |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Marked fetal hydrops |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
30
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
31
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
33
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|