1
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
24608809; 24849935; 22353939; 19797195; 25541840; 26078953
|
IBIS
|
266 / 7739
|
2
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
24608809; 26518167; 22353939; 19797195; 25541840; 26325687
|
IBIS
|
69 / 7739
|
3
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
24608809; 24849935; 22353939; 19797195; 8588586; 25541840; 26078953; 26325687
|
IBIS
|
172 / 7739
|
4
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
24608809; 26325687
|
IBIS
|
230 / 7739
|
5
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
26518167; 24849935
|
IBIS
|
47 / 7739
|
6
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
26518167
|
IBIS
|
89 / 7739
|
7
|
(HPO:0001256)
|
Intellectual disability, mild |
Frequent [IBIS]
|
|
26518167
|
IBIS
|
141 / 7739
|
8
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
|
24849935; 22353939; 25541840; 26078953
|
IBIS
|
114 / 7739
|
9
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
24849935; 19797195
|
IBIS
|
73 / 7739
|
10
|
(HPO:0000026)
|
Male hypogonadism |
Frequent [IBIS]
|
|
24849935; 26325687
|
IBIS
|
20 / 7739
|
11
|
(HPO:0100259)
|
Postaxial polydactyly |
Frequent [IBIS]
|
|
8588586; 26078953
|
IBIS
|
85 / 7739
|
12
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
24608809; 22353939
|
IBIS
|
25 / 7739
|
13
|
(HPO:0001270)
|
Motor delay |
|
|
24608809
|
IBIS
|
322 / 7739
|
14
|
(HPO:0000505)
|
Visual impairment |
|
|
22410627; 26078953
|
IBIS
|
297 / 7739
|
15
|
(HPO:0007737)
|
Bone spicule pigmentation of the retina |
|
|
22410627
|
IBIS
|
26 / 7739
|
16
|
(HPO:0007787)
|
Posterior subcapsular cataract |
|
|
22410627
|
IBIS
|
20 / 7739
|
17
|
(HPO:0000518)
|
Cataract |
|
|
26518167; 24849935; 25541840
|
IBIS
|
454 / 7739
|
18
|
(HPO:0000545)
|
Myopia |
|
|
26518167; 24849935
|
IBIS
|
286 / 7739
|
19
|
(HPO:0000486)
|
Strabismus |
|
|
26518167; 24849935
|
IBIS
|
576 / 7739
|
20
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
26518167
|
IBIS
|
197 / 7739
|
21
|
(HPO:0002705)
|
High, narrow palate |
|
|
26518167
|
IBIS
|
308 / 7739
|
22
|
(HPO:0000689)
|
Dental malocclusion |
|
|
26518167
|
IBIS
|
114 / 7739
|
23
|
(HPO:0011927)
|
Short digit |
|
|
26518167; 24849935
|
IBIS
|
17 / 7739
|
24
|
(HPO:0001159)
|
Syndactyly |
|
|
26518167
|
IBIS
|
140 / 7739
|
25
|
(HPO:0030010)
|
Hydrometrocolpos |
|
|
26518167
|
IBIS
|
6 / 7739
|
26
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
26518167
|
IBIS
|
32 / 7739
|
27
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
26518167
|
IBIS
|
75 / 7739
|
28
|
(HPO:0002240)
|
Hepatomegaly |
|
|
26518167
|
IBIS
|
467 / 7739
|
29
|
(HPO:0001631)
|
Atria septal defect |
|
|
26518167
|
IBIS
|
274 / 7739
|
30
|
(HPO:0001263)
|
Global developmental delay |
|
|
26518167
|
IBIS
|
853 / 7739
|
31
|
(HPO:0000712)
|
Emotional lability |
|
|
26518167
|
IBIS
|
44 / 7739
|
32
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
26518167
|
IBIS
|
39 / 7739
|
33
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
26518167
|
IBIS
|
67 / 7739
|
34
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
26518167
|
IBIS
|
53 / 7739
|
35
|
(HPO:0010535)
|
Sleep apnea |
|
|
26518167
|
IBIS
|
24 / 7739
|
36
|
(HPO:0000662)
|
Nyctalopia |
|
|
24849935
|
IBIS
|
92 / 7739
|
37
|
(HPO:0001161)
|
Hand polydactyly |
|
|
24849935
|
IBIS
|
71 / 7739
|
38
|
(HPO:0001829)
|
Foot polydactyly |
|
|
24849935
|
IBIS
|
41 / 7739
|
39
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
24849935
|
IBIS
|
308 / 7739
|
40
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
24849935
|
IBIS
|
358 / 7739
|
41
|
(HPO:0000752)
|
Hyperactivity |
|
|
24849935
|
IBIS
|
140 / 7739
|
42
|
(HPO:0000483)
|
Astigmatism |
|
|
24849935
|
IBIS
|
67 / 7739
|
43
|
(HPO:0000028)
|
Cryptorchidism |
|
|
24849935
|
IBIS
|
347 / 7739
|
44
|
(HPO:0100326)
|
Immunologic hypersensitivity |
|
|
22353939
|
IBIS
|
28 / 7739
|
45
|
(HPO:0012712)
|
Mild hearing impairment |
|
|
25541840
|
IBIS
|
3 / 7739
|
46
|
(HPO:0001677)
|
Coronary artery disease |
|
|
25541840
|
IBIS
|
58 / 7739
|
47
|
(HPO:0000822)
|
Hypertension |
|
|
25541840
|
IBIS
|
224 / 7739
|
48
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
26078953
|
IBIS
|
131 / 7739
|
49
|
(HPO:0000093)
|
Proteinuria |
|
|
26078953
|
IBIS
|
169 / 7739
|
50
|
(HPO:0000083)
|
Renal insufficiency |
|
|
26078953
|
IBIS
|
232 / 7739
|
51
|
(HPO:0000678)
|
Dental crowding |
|
|
26078953
|
IBIS
|
65 / 7739
|
52
|
(HPO:0001250)
|
Seizures |
|
|
26325687
|
IBIS
|
1245 / 7739
|