|
1
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
3
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
12
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
15
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
16
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
23
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
24
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
25
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|