1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000049)
|
Shawl scrotum |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
3
|
(HPO:0000054)
|
Micropenis |
rare [HPO:skoehler]
|
|
|
|
257 / 7739
|
4
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
6
|
(HPO:0000243)
|
Trigonocephaly |
rare [HPO:skoehler]
|
|
|
|
40 / 7739
|
7
|
(HPO:0000248)
|
Brachycephaly |
rare [HPO:skoehler]
|
|
|
|
222 / 7739
|
8
|
(HPO:0000263)
|
Oxycephaly |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
9
|
(HPO:0000278)
|
Retrognathia |
rare [HPO:skoehler]
|
|
|
|
100 / 7739
|
10
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
12
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
13
|
(HPO:0000411)
|
Protruding ear |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
14
|
(HPO:0009904)
|
Prominent ear helix |
|
|
|
|
8 / 7739
|
15
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
16
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
17
|
(HPO:0000465)
|
Webbed neck |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
18
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
19
|
(HPO:0000535)
|
Sparse and thin eyebrow |
rare [HPO:skoehler]
|
|
|
|
76 / 7739
|
20
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
21
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
22
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
23
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
24
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
25
|
(HPO:0001537)
|
Umbilical hernia |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
26
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
27
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
28
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
29
|
(HPO:0001669)
|
Transposition of the great arteries |
rare [HPO:skoehler]
|
|
|
|
36 / 7739
|
30
|
(HPO:0001696)
|
Situs inversus totalis |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
31
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
32
|
(HPO:0002007)
|
Frontal bossing |
rare [HPO:skoehler]
|
|
|
|
366 / 7739
|
33
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
34
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
35
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
|
|
40 / 7739
|
36
|
(HPO:0002812)
|
Coxa vara |
rare [HPO:skoehler]
|
|
|
|
58 / 7739
|
37
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
38
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
39
|
(HPO:0010239)
|
Aplasia of the middle phalanx of the hand |
|
|
|
|
3 / 7739
|
40
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
41
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
42
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
43
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
44
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
45
|
(HPO:0100259)
|
Postaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
46
|
(OMIM)
|
Increased birth weight |
|
|
|
|
6 / 7739
|
47
|
(HPO:0000262)
|
Turricephaly |
|
|
|
|
38 / 7739
|
48
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
|
|
53 / 7739
|
49
|
(OMIM)
|
Increased posterior angulation |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Sensorineural hearing loss, mild (rare) |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Nasolacrimal duct obstruction due to ectropion of lower eyelids (rare) |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Narrow nares (rare) |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Multiple dental caries |
|
|
|
|
1 / 7739
|
54
|
(HPO:0001651)
|
Dextrocardia |
|
|
|
|
38 / 7739
|
55
|
(HPO:0005180)
|
Tricuspid regurgitation |
|
|
|
|
20 / 7739
|
56
|
(OMIM)
|
Eventration of diaphragm |
|
|
|
|
4 / 7739
|
57
|
(OMIM)
|
Elevated right hemidiaphragm |
|
|
|
|
1 / 7739
|
58
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
59
|
(OMIM)
|
Left-sided liver (rare) |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Central position of liver |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Right-sided spleen (rare) |
|
|
|
|
1 / 7739
|
62
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
63
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
64
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
65
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
66
|
(HPO:0009602)
|
Abnormality of thumb phalanx |
|
|
|
|
1 / 7739
|
67
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
68
|
(OMIM)
|
Preaxial polydactyly, partial (rare) |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Clinodactyly, 5th finger (rare) |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Developmental delay, variable severity |
|
|
|
|
1 / 7739
|
71
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
72
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|