1
|
(HPO:0000130)
|
Abnormality of the uterus |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
3
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
5
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
6
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
7
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
8
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
9
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
10
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
|
|
21 / 7739
|
11
|
(HPO:0000027)
|
Azoospermia |
|
|
|
|
28 / 7739
|
12
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
13
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
14
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
15
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
16
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
17
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
18
|
(HPO:0000925)
|
Abnormality of the vertebral column |
|
|
|
|
20 / 7739
|
19
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
20
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
21
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
22
|
(HPO:0100542)
|
Abnormal localization of kidney |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
23
|
(OMIM)
|
External ear defects |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Absent-hypoplastic uterus |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Absent proximal 2/3 of vagina |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Cervicothoracic vertebral defects (especially C5-T1) |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Klippel-Feil anomaly |
|
|
|
|
3 / 7739
|
28
|
(OMIM)
|
Upper limb defects |
|
|
|
|
1 / 7739
|
29
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
30
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|