1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
3
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
|
|
|
|
221 / 7739
|
4
|
(HPO:0000046)
|
Scrotal hypoplasia |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
5
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
7
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
8
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
9
|
(HPO:0002999)
|
Patellar dislocation |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
10
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
11
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
13
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
14
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
15
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
16
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
17
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
18
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
19
|
(HPO:0004991)
|
Rhizomelic arm shortening |
|
|
|
|
2 / 7739
|
20
|
(HPO:0005025)
|
Hypoplastic distal humeri |
|
|
|
|
3 / 7739
|
21
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
22
|
(OMIM)
|
Short, curved humeri |
|
|
|
|
1 / 7739
|
23
|
(HPO:0005060)
|
Limited elbow flexion/extension |
|
|
|
|
3 / 7739
|
24
|
(OMIM)
|
Radioulnar diastasis |
|
|
|
|
2 / 7739
|
25
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
26
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
27
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|