|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0005208)
|
Secretory diarrhea |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0200020)
|
Corneal erosion |
|
|
|
|
12 / 7739
|
|
8
|
(OMIM)
|
Abdominal distention at birth |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Congenital secretory sodium diarrhea |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0000073)
|
Ureteral duplication |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0000143)
|
Rectovaginal fistula |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0000256)
|
Macrocephaly |
rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
14
|
(HPO:0000369)
|
Low-set ears |
rare [HPO:skoehler]
|
|
|
|
372 / 7739
|
|
15
|
(HPO:0000588)
|
Optic nerve coloboma |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0002023)
|
Anal atresia |
rare [HPO:skoehler]
|
|
|
|
135 / 7739
|
|
17
|
(HPO:0002566)
|
Intestinal malrotation |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|