|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0003298)
|
Spina bifida occulta |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
|
6
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
10
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0000269)
|
Prominent occiput |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
14
|
(HPO:0005257)
|
Thoracic hypoplasia |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
16
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
17
|
(HPO:0002937)
|
Hemivertebrae |
|
|
23335591
|
IBIS
|
41 / 7739
|
|
18
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
23335591
|
IBIS
|
705 / 7739
|
|
20
|
(HPO:0005107)
|
Abnormality of the sacrum |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
22
|
(HPO:0000913)
|
Posterior rib fusion |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0002948)
|
Vertebral fusion |
|
|
23335591
|
IBIS
|
28 / 7739
|
|
24
|
(HPO:0003419)
|
Low back pain |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
26
|
(OMIM)
|
Progressive low back pain |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Reduced rib number |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
30
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|