1
|
(HPO:0000556)
|
Retinal dystrophy |
Very frequent [IBIS]
|
|
20472660; 26082521
|
IBIS
|
65 / 7739
|
2
|
(HPO:0001513)
|
Obesity |
Very frequent [IBIS]
|
|
20472660; 26082521; 25982971; 24849935
|
IBIS
|
172 / 7739
|
3
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
20472660; 26082521; 25982971; 19797195
|
IBIS
|
69 / 7739
|
4
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
20472660; 26082521
|
IBIS
|
230 / 7739
|
5
|
(HPO:0012210)
|
Abnormal renal morphology |
Frequent [IBIS]
|
|
20472660
|
IBIS
|
18 / 7739
|
6
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
Frequent [IBIS]
|
|
26082521
|
IBIS
|
34 / 7739
|
7
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
26082521; 19797195
|
IBIS
|
73 / 7739
|
8
|
(HPO:0100259)
|
Postaxial polydactyly |
Frequent [IBIS]
|
|
20648243
|
IBIS
|
85 / 7739
|
9
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
20648243; 25982971
|
IBIS
|
47 / 7739
|
10
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
|
25982971
|
IBIS
|
114 / 7739
|
11
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
24849935; 19797195
|
IBIS
|
266 / 7739
|
12
|
(HPO:0000026)
|
Male hypogonadism |
Frequent [IBIS]
|
|
24849935
|
IBIS
|
20 / 7739
|
13
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
19797195
|
IBIS
|
89 / 7739
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
20472660; 26082521
|
IBIS
|
853 / 7739
|
15
|
(HPO:0000365)
|
Hearing impairment |
|
|
20472660; 26082521
|
IBIS
|
539 / 7739
|
16
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
20472660
|
IBIS
|
131 / 7739
|
17
|
(HPO:0000812)
|
Abnormal internal genitalia |
|
|
20472660
|
IBIS
|
5 / 7739
|
18
|
(HPO:0000047)
|
Hypospadias |
|
|
20472660
|
IBIS
|
250 / 7739
|
19
|
(HPO:0000148)
|
Vaginal atresia |
|
|
20472660; 24849935
|
IBIS
|
16 / 7739
|
20
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
20472660
|
IBIS
|
158 / 7739
|
21
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
|
|
20472660
|
IBIS
|
60 / 7739
|
22
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
20472660
|
IBIS
|
39 / 7739
|
23
|
(HPO:0011927)
|
Short digit |
|
|
26082521; 24849935
|
IBIS
|
17 / 7739
|
24
|
(HPO:0001159)
|
Syndactyly |
|
|
26082521; 24849935
|
IBIS
|
140 / 7739
|
25
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
26082521
|
IBIS
|
73 / 7739
|
26
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
26082521
|
IBIS
|
524 / 7739
|
27
|
(MedDRA:10052066)
|
Metabolic syndrome |
|
|
26082521
|
IBIS
|
2 / 7739
|
28
|
(HPO:0030010)
|
Hydrometrocolpos |
|
|
26082521
|
IBIS
|
6 / 7739
|
29
|
(HPO:0002099)
|
Asthma |
|
|
26082521
|
IBIS
|
62 / 7739
|
30
|
(HPO:0000028)
|
Cryptorchidism |
|
|
26082521
|
IBIS
|
347 / 7739
|
31
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
26082521
|
IBIS
|
51 / 7739
|
32
|
(HPO:0001288)
|
Gait disturbance |
|
|
26082521
|
IBIS
|
318 / 7739
|
33
|
(HPO:0000639)
|
Nystagmus |
|
|
26082521
|
IBIS
|
555 / 7739
|
34
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
26082521
|
IBIS
|
75 / 7739
|
35
|
(HPO:0007675)
|
Progressive night blindness |
|
|
20648243
|
IBIS
|
4 / 7739
|
36
|
(HPO:0000505)
|
Visual impairment |
|
|
20648243; 25982971
|
IBIS
|
297 / 7739
|
37
|
(OMIM)
|
Atypical retinitis pigmentosa |
|
|
20648243
|
IBIS
|
3 / 7739
|
38
|
(HPO:0000545)
|
Myopia |
|
|
20648243; 24849935
|
IBIS
|
286 / 7739
|
39
|
(HPO:0000483)
|
Astigmatism |
|
|
20648243
|
IBIS
|
67 / 7739
|
40
|
(HPO:0000083)
|
Renal insufficiency |
|
|
25982971
|
IBIS
|
232 / 7739
|
41
|
(HPO:0002023)
|
Anal atresia |
|
|
25982971
|
IBIS
|
135 / 7739
|
42
|
(HPO:0007401)
|
Macular atrophy |
|
|
25982971
|
IBIS
|
14 / 7739
|
43
|
(HPO:0001161)
|
Hand polydactyly |
|
|
24849935
|
IBIS
|
71 / 7739
|
44
|
(HPO:0001829)
|
Foot polydactyly |
|
|
24849935
|
IBIS
|
41 / 7739
|
45
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
24849935
|
IBIS
|
16 / 7739
|
46
|
(HPO:0004322)
|
Short stature |
|
|
24849935
|
IBIS
|
1232 / 7739
|
47
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
24849935
|
IBIS
|
31 / 7739
|
48
|
(HPO:0003076)
|
Glycosuria |
|
|
24849935
|
IBIS
|
32 / 7739
|
49
|
(HPO:0002048)
|
Renal cortical atrophy |
|
|
24849935
|
IBIS
|
3 / 7739
|
50
|
(OMIM)
|
Renal parenchymal disease |
|
|
24849935
|
IBIS
|
2 / 7739
|
51
|
(HPO:0000873)
|
Diabetes insipidus |
|
|
24849935
|
IBIS
|
34 / 7739
|
52
|
(HPO:0000795)
|
Abnormality of the urethra |
|
|
24849935
|
IBIS
|
38 / 7739
|
53
|
(HPO:0000126)
|
Hydronephrosis |
|
|
24849935
|
IBIS
|
119 / 7739
|
54
|
(HPO:0000130)
|
Abnormality of the uterus |
|
|
24849935
|
IBIS
|
86 / 7739
|
55
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
24849935
|
IBIS
|
212 / 7739
|
56
|
(HPO:0000821)
|
Hypothyroidism |
|
|
24849935
|
IBIS
|
141 / 7739
|
57
|
(HPO:0001510)
|
Growth delay |
|
|
24849935
|
IBIS
|
295 / 7739
|