1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
4
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
5
|
(HPO:0000275)
|
Narrow face |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
6
|
(HPO:0000276)
|
Long face |
Very frequent [Orphanet]
|
|
|
|
109 / 7739
|
7
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
8
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
9
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
10
|
(HPO:0000307)
|
Pointed chin |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
14
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
15
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
16
|
(HPO:0001053)
|
Hypopigmented skin patches |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
18
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
19
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
20
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
21
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
22
|
(HPO:0000601)
|
Hypotelorism |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
23
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
24
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
25
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
26
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
27
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
28
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
29
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
30
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
31
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
32
|
(HPO:0002619)
|
Varicose veins |
|
|
|
|
11 / 7739
|
33
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
34
|
(HPO:0004734)
|
Renal cortical microcysts |
|
|
|
|
10 / 7739
|
35
|
(HPO:0004794)
|
Malrotation of small bowel |
|
|
|
|
2 / 7739
|
36
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
37
|
(OMIM)
|
Aberrant subclavian artery |
|
|
|
|
2 / 7739
|
38
|
(OMIM)
|
Small bowel malrotation |
|
|
|
|
1 / 7739
|
39
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
40
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
41
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
42
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|