|
1
|
(HPO:0000003)
|
Multicystic kidney dysplasia |
|
|
|
|
17 / 7739
|
|
2
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
3
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
4
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
6
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
7
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
8
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
9
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
10
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
11
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
12
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
13
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
14
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
15
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
16
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
17
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
18
|
(HPO:0000474)
|
Thickened nuchal skin fold |
|
|
|
|
10 / 7739
|
|
19
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
20
|
(HPO:0000996)
|
Facial capillary hemangioma |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
22
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
25
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
26
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
27
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
28
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
29
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
|
30
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
31
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
32
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
33
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
34
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
|
|
21 / 7739
|
|
35
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
36
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
37
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
38
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
|
39
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
40
|
(HPO:0000356)
|
Abnormality of the outer ear |
|
|
|
|
85 / 7739
|
|
41
|
(OMIM)
|
Broad and short nose |
|
|
|
|
4 / 7739
|
|
42
|
(OMIM)
|
Nuchal skin folds |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Trilobate left lung |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Shield shaped chest |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Decreased extension of shoulder, elbow, knee, and ankles |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Axillary webbing |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Short, distally tapering fingers |
|
|
|
|
1 / 7739
|
|
48
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
49
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
50
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
51
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
52
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|