|
1
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
23432027; 19797195
|
IBIS
|
172 / 7739
|
|
2
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
23432027; 16308660; 19797195
|
IBIS
|
266 / 7739
|
|
3
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
23432027; 16308660; 19797195
|
IBIS
|
69 / 7739
|
|
4
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
23432027
|
IBIS
|
73 / 7739
|
|
5
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
16308660
|
IBIS
|
230 / 7739
|
|
6
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
19797195
|
IBIS
|
89 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
|
|
19797195
|
IBIS
|
1089 / 7739
|
|
8
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
23432027
|
IBIS
|
25 / 7739
|
|
9
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
23432027
|
IBIS
|
291 / 7739
|
|
10
|
(HPO:0000822)
|
Hypertension |
|
|
23432027
|
IBIS
|
224 / 7739
|
|
11
|
(HPO:0001696)
|
Situs inversus totalis |
|
|
14520415
|
IBIS
|
44 / 7739
|
|
12
|
(HPO:0000054)
|
Micropenis |
|
|
16308660
|
IBIS
|
257 / 7739
|
|
13
|
(HPO:0030010)
|
Hydrometrocolpos |
|
|
16308660
|
IBIS
|
6 / 7739
|
|
14
|
(HPO:0000083)
|
Renal insufficiency |
|
|
16308660
|
IBIS
|
232 / 7739
|
|
15
|
(HPO:0000110)
|
Renal dysplasia |
|
|
16308660
|
IBIS
|
44 / 7739
|
|
16
|
(HPO:0001263)
|
Global developmental delay |
|
|
19797195
|
IBIS
|
853 / 7739
|
|
17
|
(HPO:0000248)
|
Brachycephaly |
|
|
19797195
|
IBIS
|
222 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
19797195
|
IBIS
|
859 / 7739
|