1
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
25982971; 19797195; 26325687
|
IBIS
|
69 / 7739
|
2
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
25982971; 19797195; 18203199; 26325687
|
IBIS
|
172 / 7739
|
3
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
|
25982971
|
IBIS
|
114 / 7739
|
4
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
25982971; 19797195
|
IBIS
|
89 / 7739
|
5
|
(HPO:0000556)
|
Retinal dystrophy |
Frequent [IBIS]
|
|
25982971
|
IBIS
|
65 / 7739
|
6
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
25982971; 26325687
|
IBIS
|
47 / 7739
|
7
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
19797195; 18203199
|
IBIS
|
266 / 7739
|
8
|
(HPO:0100259)
|
Postaxial polydactyly |
Frequent [IBIS]
|
|
18203199
|
IBIS
|
85 / 7739
|
9
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
18203199; 26325687
|
IBIS
|
230 / 7739
|
10
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
18203199
|
IBIS
|
73 / 7739
|
11
|
(HPO:0000026)
|
Male hypogonadism |
Frequent [IBIS]
|
|
26325687
|
IBIS
|
20 / 7739
|
12
|
(HPO:0000505)
|
Visual impairment |
|
|
22410627; 25982971
|
IBIS
|
297 / 7739
|
13
|
(HPO:0007737)
|
Bone spicule pigmentation of the retina |
|
|
22410627
|
IBIS
|
26 / 7739
|
14
|
(HPO:0007787)
|
Posterior subcapsular cataract |
|
|
22410627
|
IBIS
|
20 / 7739
|
15
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
25982971
|
IBIS
|
212 / 7739
|
16
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
25982971
|
IBIS
|
131 / 7739
|
17
|
(HPO:0000365)
|
Hearing impairment |
|
|
25982971
|
IBIS
|
539 / 7739
|
18
|
(HPO:0004409)
|
Hyposmia |
|
|
25982971
|
IBIS
|
16 / 7739
|
19
|
(HPO:0000613)
|
Photophobia |
|
|
25982971
|
IBIS
|
158 / 7739
|
20
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
|
|
25982971
|
IBIS
|
60 / 7739
|
21
|
(HPO:0007401)
|
Macular atrophy |
|
|
25982971
|
IBIS
|
14 / 7739
|
22
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
25982971
|
IBIS
|
75 / 7739
|
23
|
(HPO:0000716)
|
Depression |
|
|
25982971
|
IBIS
|
99 / 7739
|
24
|
(HPO:0010535)
|
Sleep apnea |
|
|
25982971
|
IBIS
|
24 / 7739
|
25
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
18203199
|
IBIS
|
25 / 7739
|
26
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
26325687
|
IBIS
|
67 / 7739
|