|
1
|
(HPO:0000546)
|
Retinal degeneration |
Frequent [IBIS]
|
|
15654695
|
IBIS
|
61 / 7739
|
|
2
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
15654695; 24849935; 19797195; 8588586
|
IBIS
|
172 / 7739
|
|
3
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
15654695
|
IBIS
|
230 / 7739
|
|
4
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
26518167; 24849935
|
IBIS
|
47 / 7739
|
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
Frequent [IBIS]
|
|
26518167
|
IBIS
|
141 / 7739
|
|
6
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
|
24849935
|
IBIS
|
114 / 7739
|
|
7
|
(HPO:0000026)
|
Male hypogonadism |
Frequent [IBIS]
|
|
24849935
|
IBIS
|
20 / 7739
|
|
8
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
19797195; 22219648
|
IBIS
|
266 / 7739
|
|
9
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
19797195
|
IBIS
|
69 / 7739
|
|
10
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
19797195
|
IBIS
|
89 / 7739
|
|
11
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
19797195
|
IBIS
|
73 / 7739
|
|
12
|
(HPO:0000662)
|
Nyctalopia |
|
|
15654695; 24849935
|
IBIS
|
92 / 7739
|
|
13
|
(HPO:0000505)
|
Visual impairment |
|
|
15654695
|
IBIS
|
297 / 7739
|
|
14
|
(HPO:0006101)
|
Finger syndactyly |
|
|
15654695
|
IBIS
|
198 / 7739
|
|
15
|
(HPO:0000028)
|
Cryptorchidism |
|
|
15654695
|
IBIS
|
347 / 7739
|
|
16
|
(HPO:0000458)
|
Anosmia |
|
|
15654695
|
IBIS
|
49 / 7739
|
|
17
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
15654695
|
IBIS
|
291 / 7739
|
|
18
|
(HPO:0001829)
|
Foot polydactyly |
|
|
15654695; 24849935
|
IBIS
|
41 / 7739
|
|
19
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
15654695
|
IBIS
|
180 / 7739
|
|
20
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
15654695
|
IBIS
|
288 / 7739
|
|
21
|
(HPO:0001263)
|
Global developmental delay |
|
|
15654695; 26518167; 22219648
|
IBIS
|
853 / 7739
|
|
22
|
(HPO:0000107)
|
Renal cyst |
|
|
15654695
|
IBIS
|
126 / 7739
|
|
23
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
26518167; 22219648
|
IBIS
|
197 / 7739
|
|
24
|
(HPO:0002705)
|
High, narrow palate |
|
|
26518167
|
IBIS
|
308 / 7739
|
|
25
|
(HPO:0000678)
|
Dental crowding |
|
|
26518167
|
IBIS
|
65 / 7739
|
|
26
|
(HPO:0000682)
|
Abnormality of dental enamel |
|
|
26518167
|
IBIS
|
102 / 7739
|
|
27
|
(HPO:0000689)
|
Dental malocclusion |
|
|
26518167
|
IBIS
|
114 / 7739
|
|
28
|
(HPO:0011927)
|
Short digit |
|
|
26518167
|
IBIS
|
17 / 7739
|
|
29
|
(HPO:0001159)
|
Syndactyly |
|
|
26518167
|
IBIS
|
140 / 7739
|
|
30
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
26518167
|
IBIS
|
158 / 7739
|
|
31
|
(HPO:0000718)
|
Aggressive behavior |
|
|
26518167
|
IBIS
|
109 / 7739
|
|
32
|
(HPO:0002373)
|
Febrile seizures |
|
|
26518167
|
IBIS
|
37 / 7739
|
|
33
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
26518167
|
IBIS
|
39 / 7739
|
|
34
|
(HPO:0010535)
|
Sleep apnea |
|
|
26518167
|
IBIS
|
24 / 7739
|
|
35
|
(HPO:0000486)
|
Strabismus |
|
|
24849935
|
IBIS
|
576 / 7739
|
|
36
|
(HPO:0001161)
|
Hand polydactyly |
|
|
24849935
|
IBIS
|
71 / 7739
|
|
37
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
24849935
|
IBIS
|
16 / 7739
|
|
38
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
24849935
|
IBIS
|
308 / 7739
|
|
39
|
(HPO:0002370)
|
Poor coordination |
|
|
24849935
|
IBIS
|
15 / 7739
|
|
40
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
24849935
|
IBIS
|
78 / 7739
|
|
41
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
24849935
|
IBIS
|
309 / 7739
|
|
42
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
24849935
|
IBIS
|
212 / 7739
|
|
43
|
(HPO:0000639)
|
Nystagmus |
|
|
22219648
|
IBIS
|
555 / 7739
|
|
44
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
22219648
|
IBIS
|
169 / 7739
|
|
45
|
(HPO:0000490)
|
Deeply set eye |
|
|
22219648
|
IBIS
|
131 / 7739
|
|
46
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
8588586
|
IBIS
|
119 / 7739
|
|
47
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
8588586
|
IBIS
|
37 / 7739
|