|
1
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
6
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
7
|
(HPO:0002265)
|
Large fleshy ears |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
9
|
(OMIM)
|
Microbrachycephaly |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Polycystic kidneys, Potter type I |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
12
|
(HPO:0003027)
|
Mesomelia |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0009827)
|
Amelia |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|