|
1
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000465)
|
Webbed neck |
Very frequent [Orphanet]
20% [HPO:probinson]
|
|
4436358
|
IBIS
|
81 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
hallmark [HPO:probinson]
|
|
1739048
|
IBIS
|
345 / 7739
|
|
4
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
occasional [HPO:probinson]
|
|
|
|
146 / 7739
|
|
5
|
(HPO:0000912)
|
Sprengel anomaly |
Frequent [Orphanet]
21/50 [HPO:probinson]
|
|
4436358
|
IBIS
|
51 / 7739
|
|
6
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
8
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
typical [HPO:probinson]
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
30/50 [HPO:probinson]
|
|
4436358
|
IBIS
|
705 / 7739
|
|
11
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
12
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
13
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
14
|
(HPO:0005107)
|
Abnormality of the sacrum |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0005988)
|
Congenital muscular torticollis |
Frequent [Orphanet]
20% [HPO:probinson]
|
|
4436358
|
IBIS
|
11 / 7739
|
|
16
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
17
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
18
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
19
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
20
|
(HPO:0011331)
|
Hemifacial atrophy |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
21
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
23
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0000122)
|
Unilateral renal agenesis |
7/45 [HPO:probinson]
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:probinson]
|
|
|
|
349 / 7739
|
|
27
|
(HPO:0000324)
|
Facial asymmetry |
20% [HPO:probinson]
|
|
|
|
57 / 7739
|
|
28
|
(HPO:0000410)
|
Mixed hearing impairment |
5/24 [HPO:probinson]
|
|
|
|
22 / 7739
|
|
29
|
(HPO:0000466)
|
Limited neck range of motion |
hallmark [HPO:probinson]
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0001335)
|
Bimanual synkinesia |
9/50 [HPO:probinson]
|
|
|
|
9 / 7739
|
|
31
|
(HPO:0002813)
|
Abnormality of limb bone morphology |
occasional [HPO:probinson]
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0004602)
|
Cervical C2/C3 vertebral fusion |
hallmark [HPO:probinson]
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0005640)
|
Abnormal vertebral segmentation and fusion |
hallmark [HPO:probinson]
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0007291)
|
Posterior fossa cyst |
occasional [HPO:probinson]
|
|
|
|
10 / 7739
|
|
35
|
(HPO:0030325)
|
Cervicomedullary schisis |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
21/505 [HPO:probinson]
|
|
|
|
355 / 7739
|