|
1
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
4
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
5
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
6
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [HPO:probinson]
|
|
|
|
316 / 7739
|
|
7
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [HPO:probinson]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0002304)
|
Akinesia |
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
10
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
11
|
(HPO:0007964)
|
Degenerative vitreoretinopathy |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0011003)
|
Severe Myopia |
|
|
|
|
31 / 7739
|
|
13
|
(OMIM)
|
Hemifacial palsy |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
15
|
(OMIM)
|
Normal lung histology |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Cystic changes in the kidney |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Distended urinary bladder |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Anterior horn atrophy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Spinal cord glial hyperplasia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
No fetal hydrops |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|