|
1
|
(HPO:0000546)
|
Retinal degeneration |
Frequent [IBIS]
|
|
22510444
|
IBIS
|
61 / 7739
|
|
2
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
22510444; 17163542
|
IBIS
|
172 / 7739
|
|
3
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
22510444; 23692385; 17163542
|
IBIS
|
230 / 7739
|
|
4
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
22510444; 17163542
|
IBIS
|
89 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
23692385
|
IBIS
|
266 / 7739
|
|
6
|
(HPO:0100259)
|
Postaxial polydactyly |
Frequent [IBIS]
|
|
23692385; 17163542
|
IBIS
|
85 / 7739
|
|
7
|
(HPO:0001696)
|
Situs inversus totalis |
|
|
22510444; 17163542
|
IBIS
|
44 / 7739
|
|
8
|
(HPO:0000083)
|
Renal insufficiency |
|
|
22510444; 23692385; 17163542
|
IBIS
|
232 / 7739
|
|
9
|
(HPO:0000103)
|
Polyuria |
|
|
22510444; 23692385; 17163542
|
IBIS
|
60 / 7739
|
|
10
|
(HPO:0001959)
|
Polydipsia |
|
|
22510444; 23692385; 17163542
|
IBIS
|
43 / 7739
|
|
11
|
(HPO:0006159)
|
Mesoaxial hand polydactyly |
|
|
22510444; 23692385; 17163542
|
IBIS
|
5 / 7739
|
|
12
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
23692385
|
IBIS
|
23 / 7739
|
|
13
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
23692385; 17163542
|
IBIS
|
37 / 7739
|
|
14
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
23692385
|
IBIS
|
119 / 7739
|
|
15
|
(HPO:0010632)
|
Total anosmia |
|
|
23692385
|
IBIS
|
6 / 7739
|
|
16
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
23692385
|
IBIS
|
16 / 7739
|
|
17
|
(HPO:0004409)
|
Hyposmia |
|
|
23692385
|
IBIS
|
16 / 7739
|
|
18
|
(HPO:0000316)
|
Hypertelorism |
|
|
17163542
|
IBIS
|
644 / 7739
|
|
19
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
17163542
|
IBIS
|
328 / 7739
|
|
20
|
(HPO:0012368)
|
Flat face |
|
|
17163542
|
IBIS
|
106 / 7739
|
|
21
|
(HPO:0000463)
|
Anteverted nares |
|
|
17163542
|
IBIS
|
305 / 7739
|
|
22
|
(HPO:0000343)
|
Long philtrum |
|
|
17163542
|
IBIS
|
262 / 7739
|
|
23
|
(HPO:0005272)
|
Prominent nasolabial fold |
|
|
17163542
|
IBIS
|
4 / 7739
|
|
24
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
17163542
|
IBIS
|
112 / 7739
|
|
25
|
(HPO:0000218)
|
High palate |
|
|
17163542
|
IBIS
|
356 / 7739
|
|
26
|
(HPO:0000678)
|
Dental crowding |
|
|
17163542
|
IBIS
|
65 / 7739
|
|
27
|
(HPO:0000470)
|
Short neck |
|
|
17163542
|
IBIS
|
345 / 7739
|
|
28
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
17163542
|
IBIS
|
288 / 7739
|
|
29
|
(HPO:0009381)
|
Short finger |
|
|
17163542
|
IBIS
|
45 / 7739
|
|
30
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
17163542
|
IBIS
|
28 / 7739
|
|
31
|
(HPO:0012594)
|
Microalbuminuria |
|
|
17163542
|
IBIS
|
6 / 7739
|
|
32
|
(HPO:0000662)
|
Nyctalopia |
|
|
17163542
|
IBIS
|
92 / 7739
|
|
33
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
17163542
|
IBIS
|
19 / 7739
|
|
34
|
(HPO:0000618)
|
Blindness |
|
|
17163542
|
IBIS
|
124 / 7739
|
|
35
|
(HPO:0006042)
|
Y-shaped metacarpals |
|
|
17163542
|
IBIS
|
3 / 7739
|
|
36
|
(HPO:0001263)
|
Global developmental delay |
|
|
17163542
|
IBIS
|
853 / 7739
|