1
|
(HPO:0000556)
|
Retinal dystrophy |
Very frequent [IBIS]
|
|
20472660; 26082521
|
IBIS
|
65 / 7739
|
2
|
(HPO:0010442)
|
Polydactyly |
Very frequent [IBIS]
|
|
26082521; 26518167; 25982971; 23219996; 17106446; 19797195
|
IBIS
|
69 / 7739
|
3
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
20472660; 26082521; 25982971; 23403234; 23219996; 19797195
|
IBIS
|
172 / 7739
|
4
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
20472660; 26082521; 23219996
|
IBIS
|
230 / 7739
|
5
|
(HPO:0012210)
|
Abnormal renal morphology |
Frequent [IBIS]
|
|
20472660
|
IBIS
|
18 / 7739
|
6
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
Frequent [IBIS]
|
|
26082521
|
IBIS
|
34 / 7739
|
7
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
26082521
|
IBIS
|
73 / 7739
|
8
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
26518167; 25982971
|
IBIS
|
47 / 7739
|
9
|
(HPO:0000135)
|
Hypogonadism |
Frequent [IBIS]
|
|
26518167; 25982971; 23403234; 19797195
|
IBIS
|
89 / 7739
|
10
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
|
23403234
|
IBIS
|
114 / 7739
|
11
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
23403234; 23219996; 19797195
|
IBIS
|
266 / 7739
|
12
|
(HPO:0001956)
|
Truncal obesity |
Frequent [IBIS]
|
|
17106446
|
IBIS
|
39 / 7739
|
13
|
(HPO:0011297)
|
Abnormality of digit |
|
|
20472660
|
IBIS
|
4 / 7739
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
20472660; 26082521; 26518167; 23403234
|
IBIS
|
853 / 7739
|
15
|
(HPO:0000812)
|
Abnormal internal genitalia |
|
|
20472660
|
IBIS
|
5 / 7739
|
16
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
20472660
|
IBIS
|
23 / 7739
|
17
|
(HPO:0000028)
|
Cryptorchidism |
|
|
20472660; 23403234; 17106446
|
IBIS
|
347 / 7739
|
18
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
20472660
|
IBIS
|
28 / 7739
|
19
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
20472660; 26518167; 23403234
|
IBIS
|
158 / 7739
|
20
|
(HPO:0000365)
|
Hearing impairment |
|
|
20472660; 26518167
|
IBIS
|
539 / 7739
|
21
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
|
|
20472660
|
IBIS
|
60 / 7739
|
22
|
(HPO:0000140)
|
Abnormality of the menstrual cycle |
|
|
20472660
|
IBIS
|
7 / 7739
|
23
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
20472660; 26518167; 25982971
|
IBIS
|
131 / 7739
|
24
|
(HPO:0000148)
|
Vaginal atresia |
|
|
20472660
|
IBIS
|
16 / 7739
|
25
|
(HPO:0030010)
|
Hydrometrocolpos |
|
|
20472660
|
IBIS
|
6 / 7739
|
26
|
(HPO:0002099)
|
Asthma |
|
|
20472660; 26518167
|
IBIS
|
62 / 7739
|
27
|
(HPO:0000956)
|
Acanthosis nigricans |
|
|
20472660
|
IBIS
|
54 / 7739
|
28
|
(HPO:0011927)
|
Short digit |
|
|
26082521; 26518167; 17106446
|
IBIS
|
17 / 7739
|
29
|
(HPO:0001159)
|
Syndactyly |
|
|
26082521; 26518167; 17106446
|
IBIS
|
140 / 7739
|
30
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
|
|
26082521
|
IBIS
|
73 / 7739
|
31
|
(HPO:0000639)
|
Nystagmus |
|
|
26082521
|
IBIS
|
555 / 7739
|
32
|
(HPO:0000505)
|
Visual impairment |
|
|
22410627; 25982971; 17106446
|
IBIS
|
297 / 7739
|
33
|
(HPO:0007737)
|
Bone spicule pigmentation of the retina |
|
|
22410627
|
IBIS
|
26 / 7739
|
34
|
(HPO:0007787)
|
Posterior subcapsular cataract |
|
|
22410627
|
IBIS
|
20 / 7739
|
35
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
26518167; 17106446
|
IBIS
|
197 / 7739
|
36
|
(HPO:0002705)
|
High, narrow palate |
|
|
26518167
|
IBIS
|
308 / 7739
|
37
|
(HPO:0000704)
|
Periodontitis |
|
|
26518167
|
IBIS
|
24 / 7739
|
38
|
(HPO:0000689)
|
Dental malocclusion |
|
|
26518167
|
IBIS
|
114 / 7739
|
39
|
(HPO:0012303)
|
Abnormality of the aortic arch |
|
|
26518167
|
IBIS
|
57 / 7739
|
40
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
26518167; 17106446
|
IBIS
|
37 / 7739
|
41
|
(HPO:0000716)
|
Depression |
|
|
26518167
|
IBIS
|
99 / 7739
|
42
|
(HPO:0001250)
|
Seizures |
|
|
26518167
|
IBIS
|
1245 / 7739
|
43
|
(HPO:0010535)
|
Sleep apnea |
|
|
26518167
|
IBIS
|
24 / 7739
|
44
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
26518167
|
IBIS
|
141 / 7739
|
45
|
(HPO:0000107)
|
Renal cyst |
|
|
26518167
|
IBIS
|
126 / 7739
|
46
|
(HPO:0000126)
|
Hydronephrosis |
|
|
26518167
|
IBIS
|
119 / 7739
|
47
|
(HPO:0000678)
|
Dental crowding |
|
|
26518167
|
IBIS
|
65 / 7739
|
48
|
(HPO:0000682)
|
Abnormality of dental enamel |
|
|
26518167
|
IBIS
|
102 / 7739
|
49
|
(HPO:0000545)
|
Myopia |
|
|
26518167; 23403234
|
IBIS
|
286 / 7739
|
50
|
(HPO:0000842)
|
Hyperinsulinemia |
|
|
26518167
|
IBIS
|
39 / 7739
|
51
|
(HPO:0000718)
|
Aggressive behavior |
|
|
26518167
|
IBIS
|
109 / 7739
|
52
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
26518167
|
IBIS
|
53 / 7739
|
53
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
26518167
|
IBIS
|
67 / 7739
|
54
|
(HPO:0001959)
|
Polydipsia |
|
|
25982971
|
IBIS
|
43 / 7739
|
55
|
(HPO:0000141)
|
Amenorrhea |
|
|
25982971
|
IBIS
|
16 / 7739
|
56
|
(HPO:0000613)
|
Photophobia |
|
|
25982971
|
IBIS
|
158 / 7739
|
57
|
(HPO:0007641)
|
Dyschromatopsia |
|
|
25982971
|
IBIS
|
19 / 7739
|
58
|
(HPO:0000642)
|
Red-green dyschromatopsia |
|
|
25982971
|
IBIS
|
25 / 7739
|
59
|
(HPO:0007401)
|
Macular atrophy |
|
|
25982971
|
IBIS
|
14 / 7739
|
60
|
(HPO:0000798)
|
Oligospermia |
|
|
25982971
|
IBIS
|
13 / 7739
|
61
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
23403234; 23219996
|
IBIS
|
119 / 7739
|
62
|
(HPO:0000739)
|
Anxiety |
|
|
23403234
|
IBIS
|
67 / 7739
|
63
|
(HPO:0100962)
|
Shyness |
|
|
23403234
|
IBIS
|
2 / 7739
|
64
|
(HPO:0000662)
|
Nyctalopia |
|
|
23403234; 17106446
|
IBIS
|
92 / 7739
|
65
|
(HPO:0000483)
|
Astigmatism |
|
|
23403234; 17106446
|
IBIS
|
67 / 7739
|
66
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
23403234
|
IBIS
|
37 / 7739
|
67
|
(HPO:0000054)
|
Micropenis |
|
|
23403234; 17106446
|
IBIS
|
257 / 7739
|
68
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
23219996
|
IBIS
|
37 / 7739
|
69
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
23219996
|
IBIS
|
50 / 7739
|
70
|
(HPO:0004361)
|
Abnormality of circulating leptin level |
|
|
21209035
|
IBIS
|
2 / 7739
|
71
|
(HPO:0000311)
|
Round face |
|
|
17106446
|
IBIS
|
104 / 7739
|
72
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
17106446
|
IBIS
|
25 / 7739
|
73
|
(HPO:0001270)
|
Motor delay |
|
|
17106446
|
IBIS
|
322 / 7739
|
74
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
17106446
|
IBIS
|
56 / 7739
|
75
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
17106446
|
IBIS
|
56 / 7739
|
76
|
(HPO:0000020)
|
Urinary incontinence |
|
|
17106446
|
IBIS
|
75 / 7739
|