|
1
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
4
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
8
|
(HPO:0000349)
|
Widow's peak |
|
|
|
|
26 / 7739
|
|
9
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
11
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
13
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
14
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
15
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
16
|
(HPO:0001500)
|
Broad finger |
|
|
|
|
9 / 7739
|
|
17
|
(HPO:0001698)
|
Pericardial effusion |
rare [HPO:skoehler]
|
|
|
|
20 / 7739
|
|
18
|
(HPO:0011853)
|
Serous pericardial effusion |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
20
|
(HPO:0009789)
|
Perianal abscess |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
22
|
(HPO:0010805)
|
Upturned corners of mouth |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
24
|
(OMIM)
|
Low-normal height |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
26
|
(OMIM)
|
Fleshy and overfolded helices |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Pericarditis, inflammatory (in some patients) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Pectus carinatum, above |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Pectus excavatum, below |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
31
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
|
32
|
(OMIM)
|
Brachydactyly, relative |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Cellulitis, recurrent |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
37
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|