1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
3
|
(HPO:0000033)
|
Ambiguous genitalia, male |
|
|
|
|
9 / 7739
|
4
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
5
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
6
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
7
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
8
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
9
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
10
|
(HPO:0000243)
|
Trigonocephaly |
|
|
|
|
40 / 7739
|
11
|
(HPO:0000262)
|
Turricephaly |
|
|
|
|
38 / 7739
|
12
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
13
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
14
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
15
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
16
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
17
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
18
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
19
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
20
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
|
|
22 / 7739
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
22
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
23
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
24
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
25
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
26
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
27
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
28
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
29
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
30
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
31
|
(HPO:0001076)
|
Glabellar hemangioma |
|
|
|
|
4 / 7739
|
32
|
(HPO:0001188)
|
Hand clenching |
|
|
|
|
9 / 7739
|
33
|
(HPO:0001238)
|
Slender finger |
|
|
|
|
23 / 7739
|
34
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
35
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
36
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
37
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
38
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
39
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
40
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
41
|
(HPO:0002000)
|
Short columella |
|
|
|
|
11 / 7739
|
42
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
|
|
40 / 7739
|
43
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
44
|
(HPO:0002828)
|
Multiple joint contractures |
|
|
|
|
16 / 7739
|
45
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
46
|
(HPO:0004797)
|
Multiple small bowel atresias |
|
|
|
|
1 / 7739
|
47
|
(HPO:0005326)
|
Hypoplastic philtrum |
|
|
|
|
4 / 7739
|
48
|
(HPO:0006184)
|
Decreased palmar creases |
|
|
|
|
5 / 7739
|
49
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
50
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
51
|
(HPO:0007099)
|
Arnold-Chiari type I malformation |
|
|
|
|
18 / 7739
|
52
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
53
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
54
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
55
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
56
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
57
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
58
|
(OMIM)
|
Long, hypoplastic philtrum |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Micrognathia, mild |
|
|
|
|
8 / 7739
|
60
|
(OMIM)
|
Neutral palpebral fissures |
|
|
|
|
1 / 7739
|
61
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
62
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
63
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
64
|
(OMIM)
|
Absent REM sleep |
|
|
|
|
1 / 7739
|
65
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|