|
1
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
10973238; 24608809; 22353939
|
IBIS
|
266 / 7739
|
|
2
|
(HPO:0100259)
|
Postaxial polydactyly |
Frequent [IBIS]
|
|
10973238
|
IBIS
|
85 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
|
|
10973238
|
IBIS
|
1089 / 7739
|
|
4
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
10973238; 24608809; 20472660; 26082521; 25982971; 22353939; 10973251
|
IBIS
|
172 / 7739
|
|
5
|
(HPO:0012210)
|
Abnormal renal morphology |
Frequent [IBIS]
|
|
10973238; 20472660; 25982971
|
IBIS
|
18 / 7739
|
|
6
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
24608809; 20472660; 26082521; 25982971; 22353939
|
IBIS
|
69 / 7739
|
|
7
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
24608809; 20472660; 26082521
|
IBIS
|
230 / 7739
|
|
8
|
(HPO:0000556)
|
Retinal dystrophy |
Frequent [IBIS]
|
|
20472660; 26082521; 10973251
|
IBIS
|
65 / 7739
|
|
9
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
26082521; 22353939; 10973251
|
IBIS
|
73 / 7739
|
|
10
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
|
10973251
|
IBIS
|
114 / 7739
|
|
11
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
10973238
|
IBIS
|
141 / 7739
|
|
12
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
10973238
|
IBIS
|
131 / 7739
|
|
13
|
(HPO:0001270)
|
Motor delay |
|
|
24608809
|
IBIS
|
322 / 7739
|
|
14
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
24608809
|
IBIS
|
25 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
20472660; 26082521
|
IBIS
|
853 / 7739
|
|
16
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
20472660
|
IBIS
|
23 / 7739
|
|
17
|
(HPO:0000028)
|
Cryptorchidism |
|
|
20472660
|
IBIS
|
347 / 7739
|
|
18
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
20472660
|
IBIS
|
28 / 7739
|
|
19
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
20472660
|
IBIS
|
158 / 7739
|
|
20
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
|
|
20472660
|
IBIS
|
60 / 7739
|
|
21
|
(HPO:0000365)
|
Hearing impairment |
|
|
20472660
|
IBIS
|
539 / 7739
|
|
22
|
(HPO:0001159)
|
Syndactyly |
|
|
26082521
|
IBIS
|
140 / 7739
|
|
23
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
|
|
26082521
|
IBIS
|
34 / 7739
|
|
24
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
26082521
|
IBIS
|
73 / 7739
|
|
25
|
(HPO:0000126)
|
Hydronephrosis |
|
|
25982971
|
IBIS
|
119 / 7739
|
|
26
|
(HPO:0001631)
|
Atria septal defect |
|
|
25982971
|
IBIS
|
274 / 7739
|
|
27
|
(HPO:0000505)
|
Visual impairment |
|
|
25982971
|
IBIS
|
297 / 7739
|