|
1
|
(HPO:0000121)
|
Nephrocalcinosis |
2/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
57 / 7739
|
|
2
|
(HPO:0000154)
|
Wide mouth |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
137 / 7739
|
|
3
|
(HPO:0000179)
|
Thick lower lip vermilion |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
72 / 7739
|
|
4
|
(HPO:0000215)
|
Thick upper lip vermilion |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
17 / 7739
|
|
5
|
(HPO:0000256)
|
Macrocephaly |
15/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
298 / 7739
|
|
6
|
(HPO:0000276)
|
Long face |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
109 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
644 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
290 / 7739
|
|
9
|
(HPO:0000873)
|
Diabetes insipidus |
2/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
34 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
990 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
17522105
|
IBIS
|
853 / 7739
|
|
12
|
(HPO:0001561)
|
Polyhydramnios |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
191 / 7739
|
|
13
|
(HPO:0001622)
|
Premature birth |
15/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
100 / 7739
|
|
14
|
(HPO:0001631)
|
Atria septal defect |
4/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
274 / 7739
|
|
15
|
(HPO:0002003)
|
Large forehead |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
9 / 7739
|
|
16
|
(HPO:0012371)
|
Hyperplasia of midface |
16/16 [HPO:probinson]
|
|
17522105
|
IBIS
|
10 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|