|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000074)
|
Ureteropelvic junction obstruction |
|
|
|
|
15 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
8
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
9
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
10
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
12
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
13
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
14
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
|
15
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
17
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
18
|
(HPO:0001212)
|
Prominent fingertip pads |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
23
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
24
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
25
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
26
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
27
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
28
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
29
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
|
30
|
(HPO:0001973)
|
Autoimmune thrombocytopenia |
|
|
|
|
18 / 7739
|
|
31
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
32
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
33
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
|
34
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
35
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
36
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
37
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
|
38
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
39
|
(HPO:0004736)
|
Crossed fused renal ectopia |
|
|
|
|
5 / 7739
|
|
40
|
(HPO:0005218)
|
Anoperineal fistula |
|
|
|
|
2 / 7739
|
|
41
|
(HPO:0007655)
|
Eversion of lateral third of lower eyelids |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
43
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
|
44
|
(HPO:0010314)
|
Premature thelarche |
|
|
|
|
4 / 7739
|
|
45
|
(OMIM)
|
Trapezoid philtrum |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Recurrent otitis media in infancy |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Thick eyelashes |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Short nasal columella |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
50
|
(HPO:0011951)
|
Aspiration pneumonia |
|
|
|
|
6 / 7739
|
|
51
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
52
|
(OMIM)
|
Single fused kidneys |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Increased digital ulnar loop and hypothenar loop patterns |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Absent digital triradius c and/or d |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
56
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|