|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
4
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
5
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0000242)
|
Parietal bossing |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
9
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
12
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
13
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
14
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
15
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
16
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
17
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
18
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
20
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
21
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
22
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
23
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
24
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
25
|
(HPO:0000921)
|
Missing ribs |
|
|
|
|
62 / 7739
|
|
26
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
27
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
28
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
29
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
30
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
31
|
(HPO:0004971)
|
Pulmonary artery hypoplasia |
|
|
|
|
15 / 7739
|
|
32
|
(HPO:0001682)
|
Subaortic stenosis |
|
|
|
|
17 / 7739
|
|
33
|
(HPO:0001709)
|
Third degree atrioventricular block |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
35
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
36
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
|
37
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
38
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
39
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
40
|
(HPO:0004409)
|
Hyposmia |
|
|
|
|
16 / 7739
|
|
41
|
(HPO:0008724)
|
Hypoplasia of the ovary |
|
|
|
|
6 / 7739
|
|
42
|
(HPO:0011710)
|
Bundle branch block |
|
|
|
|
14 / 7739
|
|
43
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
44
|
(OMIM)
|
Broad flat nose |
|
|
|
|
4 / 7739
|
|
45
|
(OMIM)
|
Superior EKG axis (-60 degrees to -120 degrees) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Absent ovaries |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
1-5mm dark lentigines (especially neck and trunk) |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Lentigines may be absent |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Lentigines may be congenital or develop in first months to years of life |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
cafe-noir spots (trunk) |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Late menarche |
|
|
|
|
1 / 7739
|