|
1
|
(HPO:0000540)
|
Hypermetropia |
Frequent [Orphanet]
|
|
|
|
99 / 7739
|
|
2
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
3
|
(HPO:0001601)
|
Laryngomalacia |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
7
|
(HPO:0001591)
|
Bell-shaped thorax |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
8
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
9
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
11
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
12
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0001533)
|
Slender build |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0001602)
|
Laryngeal stenosis |
|
|
|
|
21 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002686)
|
Prenatal maternal abnormality |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
18
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
19
|
(HPO:0003275)
|
Narrow pelvis bone |
|
|
|
|
8 / 7739
|
|
20
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
21
|
(HPO:0006606)
|
Irregular chondrocostal junctions |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|