|
1
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
15654695; 25552655; 24550735; 12016587; 24611592; 26082521
|
IBIS
|
172 / 7739
|
|
2
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
Frequent [Orphanet]
|
|
24611592; 26082521
|
IBIS
|
89 / 7739
|
|
3
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
Very frequent [Orphanet]
8.0000 % [HPO]
|
|
26082521
|
IBIS
|
266 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
Very frequent [Orphanet]
25.0000 % [HPO]
|
|
24611592; 26082521
|
IBIS
|
1089 / 7739
|
|
5
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
20827784
|
IBIS
|
114 / 7739
|
|
6
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
26082521; 20827784
|
IBIS
|
73 / 7739
|
|
7
|
(HPO:0000556)
|
Retinal dystrophy |
Frequent [IBIS]
|
|
26082521
|
IBIS
|
65 / 7739
|
|
8
|
(HPO:0000546)
|
Retinal degeneration |
Frequent [IBIS]
|
|
15654695; 25552655; 24550735; 12016587; 26082521
|
IBIS
|
61 / 7739
|
|
9
|
(HPO:0100259)
|
Postaxial polydactyly |
Frequent [IBIS]
|
|
26082521; 20827784
|
IBIS
|
85 / 7739
|
|
10
|
(HPO:0012210)
|
Abnormal renal morphology |
Frequent [IBIS]
|
|
26082521
|
IBIS
|
18 / 7739
|
|
11
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
20827784
|
IBIS
|
47 / 7739
|
|
12
|
(HPO:0001956)
|
Truncal obesity |
Frequent [IBIS]
|
|
20827784
|
IBIS
|
39 / 7739
|
|
13
|
(HPO:0000026)
|
Male hypogonadism |
Frequent [IBIS]
|
|
20827784
|
IBIS
|
20 / 7739
|