1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0000588)
|
Optic nerve coloboma |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
3
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
5
|
(HPO:0005707)
|
Bilateral triphalangeal thumbs |
|
|
|
|
5 / 7739
|
6
|
(HPO:0005725)
|
Nonopposable triphalangeal thumb |
|
|
|
|
4 / 7739
|
7
|
(HPO:0005866)
|
Opposable triphalangeal thumb |
|
|
|
|
5 / 7739
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
10
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
11
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
12
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
13
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
14
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
15
|
(HPO:0009486)
|
Radial deviation of the hand |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
16
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
17
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
18
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
19
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
20
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
21
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
22
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
23
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
24
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
25
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
26
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
27
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
28
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
29
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
30
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
31
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
32
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
33
|
(HPO:0010109)
|
Short hallux |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
34
|
(HPO:0010055)
|
Broad hallux |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
35
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
36
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
37
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
38
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
39
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
40
|
(HPO:0000480)
|
Retinal coloboma |
|
|
|
|
16 / 7739
|
41
|
(HPO:0009658)
|
Aplasia/Hypoplasia of the phalanges of the thumb |
|
|
|
|
4 / 7739
|
42
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
43
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
44
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
45
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
46
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
47
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
48
|
(HPO:0000487)
|
Congenital strabismus |
|
|
|
|
4 / 7739
|
49
|
(HPO:0000542)
|
Impaired ocular adduction |
|
|
|
|
4 / 7739
|
50
|
(HPO:0000619)
|
Impaired convergence |
|
|
|
|
4 / 7739
|
51
|
(HPO:0000634)
|
Impaired ocular abduction |
|
|
|
|
4 / 7739
|
52
|
(HPO:0000661)
|
Palpebral fissure narrowing on adduction |
|
|
|
|
4 / 7739
|
53
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
54
|
(HPO:0001245)
|
Small thenar eminence |
|
|
|
|
10 / 7739
|
55
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
56
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
57
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
58
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
59
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
60
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
61
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
62
|
(HPO:0002949)
|
Fused cervical vertebrae |
|
|
|
|
13 / 7739
|
63
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
64
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
65
|
(HPO:0004712)
|
Renal malrotation |
|
|
|
|
6 / 7739
|
66
|
(HPO:0004736)
|
Crossed fused renal ectopia |
|
|
|
|
5 / 7739
|
67
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
68
|
(HPO:0007766)
|
Optic disc hypoplasia |
|
|
|
|
7 / 7739
|
69
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
70
|
(HPO:0008588)
|
Slit-like opening of the exterior auditory meatus |
|
|
|
|
2 / 7739
|
71
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
72
|
(HPO:0008998)
|
Pectoralis hypoplasia |
|
|
|
|
2 / 7739
|
73
|
(HPO:0009016)
|
Upper limb muscle hypoplasia |
|
|
|
|
2 / 7739
|
74
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
75
|
(HPO:0009921)
|
Duane anomaly |
|
|
|
|
9 / 7739
|
76
|
(HPO:0010048)
|
Aplasia of metacarpal bones |
|
|
|
|
6 / 7739
|
77
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
78
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
79
|
(HPO:0100542)
|
Abnormal localization of kidney |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
80
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
81
|
(OMIM)
|
Optic disc dysplasia |
|
|
|
|
3 / 7739
|
82
|
(OMIM)
|
Epicanthal folds, mild |
|
|
|
|
3 / 7739
|
83
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
84
|
(OMIM)
|
Gastrointestinal anomalies (less common) |
|
|
|
|
2 / 7739
|
85
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
|
|
73 / 7739
|
86
|
(OMIM)
|
Abnormally placed kidney (dystopic) |
|
|
|
|
2 / 7739
|
87
|
(OMIM)
|
Pelvicalyceal dilatation |
|
|
|
|
3 / 7739
|
88
|
(OMIM)
|
Radial ray abnormalities, highly variable |
|
|
|
|
2 / 7739
|
89
|
(OMIM)
|
Club hand |
|
|
|
|
3 / 7739
|
90
|
(OMIM)
|
Thenar eminence hypoplasia |
|
|
|
|
2 / 7739
|
91
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
92
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
93
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
94
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|