1
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
2
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
5
|
(HPO:0000474)
|
Thickened nuchal skin fold |
|
|
|
|
10 / 7739
|
6
|
(HPO:0005989)
|
Redundant neck skin |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
7
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
8
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
10
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
11
|
(HPO:0100625)
|
Enlarged thorax |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
12
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
13
|
(HPO:0009553)
|
Abnormality of the hairline |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
14
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
15
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
16
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
17
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
18
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
19
|
(HPO:0002002)
|
Deep philtrum |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
20
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
21
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
22
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
23
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
24
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
25
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
26
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
27
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
28
|
(HPO:0000062)
|
Ambiguous genitalia |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
29
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
30
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
31
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
32
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
33
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
34
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
35
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
36
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
37
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
38
|
(HPO:0000051)
|
Perineal hypospadias |
|
|
|
|
6 / 7739
|
39
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
40
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
41
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
42
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
43
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
44
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
45
|
(HPO:0001540)
|
Diastasis recti |
|
|
|
|
23 / 7739
|
46
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
47
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
48
|
(HPO:0004443)
|
Lambdoidal craniosynostosis |
|
|
|
|
15 / 7739
|
49
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
50
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
51
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
52
|
(OMIM)
|
Broad, high nasal root |
|
|
|
|
2 / 7739
|
53
|
(OMIM)
|
Neck webs |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Multiple hair whorls |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
56
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
57
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
58
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
59
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
60
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
61
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|