1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
2
|
(HPO:0001180)
|
Hand oligodactyly |
|
|
|
|
17 / 7739
|
3
|
(HPO:0009380)
|
Aplasia of the fingers |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
4
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
5
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
6
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
7
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
8
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
9
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
10
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
11
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
12
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
13
|
(HPO:0003042)
|
Elbow dislocation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
15
|
(HPO:0003063)
|
Abnormality of the humerus |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
16
|
(HPO:0100841)
|
Microgastria |
Very frequent [Orphanet]
|
|
|
|
1 / 7739
|
17
|
(HPO:0009829)
|
Phocomelia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
18
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
19
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
20
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
21
|
(HPO:0009827)
|
Amelia |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
22
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
23
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
24
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
25
|
(HPO:0001660)
|
Truncus arteriosus |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
26
|
(HPO:0001746)
|
Asplenia |
|
|
|
|
19 / 7739
|
27
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
28
|
(HPO:0002101)
|
Abnormal lung lobation |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
29
|
(HPO:0005988)
|
Congenital muscular torticollis |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
30
|
(HPO:0004050)
|
Absent hand |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
31
|
(HPO:0002139)
|
Arrhinencephaly |
|
|
|
|
13 / 7739
|
32
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
33
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
34
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
35
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
36
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
37
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
38
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
39
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
40
|
(HPO:0000125)
|
Pelvic kidney |
|
|
|
|
10 / 7739
|
41
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
42
|
(HPO:0001080)
|
Biliary tract abnormality |
|
|
|
|
26 / 7739
|
43
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
44
|
(HPO:0001684)
|
Secundum atrial septal defect |
|
|
|
|
14 / 7739
|
45
|
(HPO:0001743)
|
Abnormality of the spleen |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
46
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
47
|
(HPO:0004384)
|
Type I truncus arteriosus |
|
|
|
|
1 / 7739
|
48
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
49
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
50
|
(HPO:0010664)
|
Fusion of the left and right thalami |
|
|
|
|
1 / 7739
|
51
|
(HPO:0011467)
|
Absent gallbladder |
|
|
|
|
6 / 7739
|
52
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
53
|
(OMIM)
|
Hyposplenia |
|
|
|
|
2 / 7739
|
54
|
(OMIM)
|
Splenogonadal fusion |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Terminal transverse defects of humerus |
|
|
|
|
1 / 7739
|
56
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
57
|
(HPO:0002132)
|
Porencephaly |
|
|
|
|
18 / 7739
|
58
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
59
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
60
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
61
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
62
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
63
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|