|
1
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
26518167; 26325687
|
IBIS
|
47 / 7739
|
|
2
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
26518167; 22353939; 19797195; 19402160; 19093007; 26325687
|
IBIS
|
69 / 7739
|
|
3
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
26518167; 19797195; 19402160
|
IBIS
|
89 / 7739
|
|
4
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
24849935; 22353939; 19797195; 19402160; 19093007; 26325687
|
IBIS
|
172 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
24849935; 22353939; 19797195
|
IBIS
|
266 / 7739
|
|
6
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
24849935; 22353939; 19797195; 19093007
|
IBIS
|
73 / 7739
|
|
7
|
(HPO:0000026)
|
Male hypogonadism |
Frequent [IBIS]
|
|
24849935
|
IBIS
|
20 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
|
|
22353939; 19797195
|
IBIS
|
1089 / 7739
|
|
9
|
(HPO:0000546)
|
Retinal degeneration |
Frequent [IBIS]
|
|
19402160
|
IBIS
|
61 / 7739
|
|
10
|
(HPO:0000556)
|
Retinal dystrophy |
Frequent [IBIS]
|
|
19093007
|
IBIS
|
65 / 7739
|
|
11
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
|
19093007
|
IBIS
|
114 / 7739
|
|
12
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
26325687
|
IBIS
|
230 / 7739
|
|
13
|
(HPO:0000505)
|
Visual impairment |
|
|
22410627; 19402160
|
IBIS
|
297 / 7739
|
|
14
|
(HPO:0007787)
|
Posterior subcapsular cataract |
|
|
22410627
|
IBIS
|
20 / 7739
|
|
15
|
(HPO:0007737)
|
Bone spicule pigmentation of the retina |
|
|
22410627
|
IBIS
|
26 / 7739
|
|
16
|
(HPO:0000639)
|
Nystagmus |
|
|
26518167; 24849935
|
IBIS
|
555 / 7739
|
|
17
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
26518167; 19093007
|
IBIS
|
197 / 7739
|
|
18
|
(HPO:0002705)
|
High, narrow palate |
|
|
26518167
|
IBIS
|
308 / 7739
|
|
19
|
(HPO:0000678)
|
Dental crowding |
|
|
26518167; 26325687
|
IBIS
|
65 / 7739
|
|
20
|
(HPO:0011927)
|
Short digit |
|
|
26518167; 24849935; 19402160
|
IBIS
|
17 / 7739
|
|
21
|
(HPO:0001159)
|
Syndactyly |
|
|
26518167
|
IBIS
|
140 / 7739
|
|
22
|
(HPO:0000126)
|
Hydronephrosis |
|
|
26518167
|
IBIS
|
119 / 7739
|
|
23
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
26518167
|
IBIS
|
78 / 7739
|
|
24
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
26518167; 19402160
|
IBIS
|
75 / 7739
|
|
25
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
26518167; 19402160
|
IBIS
|
158 / 7739
|
|
26
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
26518167; 19402160
|
IBIS
|
141 / 7739
|
|
27
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
26518167; 19402160
|
IBIS
|
37 / 7739
|
|
28
|
(HPO:0001263)
|
Global developmental delay |
|
|
26518167; 19797195; 19402160
|
IBIS
|
853 / 7739
|
|
29
|
(HPO:0000712)
|
Emotional lability |
|
|
26518167; 19093007
|
IBIS
|
44 / 7739
|
|
30
|
(HPO:0000739)
|
Anxiety |
|
|
26518167
|
IBIS
|
67 / 7739
|
|
31
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
26518167
|
IBIS
|
39 / 7739
|
|
32
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
26518167; 19402160
|
IBIS
|
67 / 7739
|
|
33
|
(HPO:0002099)
|
Asthma |
|
|
26518167
|
IBIS
|
62 / 7739
|
|
34
|
(HPO:0000545)
|
Myopia |
|
|
24849935
|
IBIS
|
286 / 7739
|
|
35
|
(HPO:0001161)
|
Hand polydactyly |
|
|
24849935
|
IBIS
|
71 / 7739
|
|
36
|
(HPO:0001829)
|
Foot polydactyly |
|
|
24849935
|
IBIS
|
41 / 7739
|
|
37
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
24849935
|
IBIS
|
308 / 7739
|
|
38
|
(HPO:0001627)
|
Abnormal heart morphology |
|
|
24849935; 26325687
|
IBIS
|
19 / 7739
|
|
39
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
24849935
|
IBIS
|
212 / 7739
|
|
40
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
24849935
|
IBIS
|
358 / 7739
|
|
41
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
24849935
|
IBIS
|
78 / 7739
|
|
42
|
(HPO:0100326)
|
Immunologic hypersensitivity |
|
|
22353939
|
IBIS
|
28 / 7739
|
|
43
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
22353939
|
IBIS
|
169 / 7739
|
|
44
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
22353939; 19093007
|
IBIS
|
25 / 7739
|
|
45
|
(HPO:0009381)
|
Short finger |
|
|
19797195
|
IBIS
|
45 / 7739
|
|
46
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
19402160
|
IBIS
|
53 / 7739
|
|
47
|
(HPO:0000508)
|
Ptosis |
|
|
19093007
|
IBIS
|
459 / 7739
|
|
48
|
(HPO:0000486)
|
Strabismus |
|
|
19093007; 26325687
|
IBIS
|
576 / 7739
|
|
49
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
19093007
|
IBIS
|
46 / 7739
|
|
50
|
(HPO:0002354)
|
Memory impairment |
|
|
19093007
|
IBIS
|
63 / 7739
|
|
51
|
(HPO:0001270)
|
Motor delay |
|
|
19093007
|
IBIS
|
322 / 7739
|
|
52
|
(HPO:0001324)
|
Muscle weakness |
|
|
19093007
|
IBIS
|
859 / 7739
|
|
53
|
(HPO:0000158)
|
Macroglossia |
|
|
19093007
|
IBIS
|
119 / 7739
|
|
54
|
(HPO:0001608)
|
Abnormality of the voice |
|
|
19093007
|
IBIS
|
126 / 7739
|
|
55
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
19093007
|
IBIS
|
79 / 7739
|
|
56
|
(HPO:0010945)
|
Fetal pyelectasis |
|
|
26325687
|
IBIS
|
1 / 7739
|