1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
2
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
4
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
5
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
6
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
7
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
9
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
12
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
13
|
(HPO:0002947)
|
Cervical kyphosis |
|
|
|
|
6 / 7739
|
14
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
15
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
16
|
(HPO:0003185)
|
Short sacroiliac notch |
|
|
|
|
7 / 7739
|
17
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
18
|
(HPO:0003440)
|
Horizontal sacrum |
|
|
|
|
5 / 7739
|
19
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
20
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
21
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
22
|
(HPO:0006375)
|
Dumbbell-shaped femur |
|
|
|
|
2 / 7739
|
23
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
24
|
(OMIM)
|
Vertebral body coronal clefts |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Round-shaped iliac bones |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Flat acetabulae |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Severe micromelia |
|
|
|
|
5 / 7739
|
28
|
(OMIM)
|
Bifid distal humerus |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Short, dumbbell femur |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Abducted thumbs and great toes |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Hypoplastic, rounded middle phalanges |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Stillborn or death shortly after birth |
|
|
|
|
3 / 7739
|
33
|
(OMIM)
|
Lacunar halos around chondrocytes in skeletal cartilage |
|
|
|
|
1 / 7739
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
35
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|