|
1
|
(HPO:0000269)
|
Prominent occiput |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
2
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
3
|
(HPO:0001061)
|
Acne |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
7
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
10
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
11
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
13
|
(HPO:0001654)
|
Abnormality of the heart valves |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
14
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
15
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
16
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
20
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
21
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
25
|
(HPO:0000484)
|
Hyperopic astigmatism |
|
|
|
|
8 / 7739
|
|
26
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
27
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
28
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
29
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
30
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
|
31
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
32
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
33
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
34
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
35
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
36
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
37
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
38
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
|
|
15 / 7739
|
|
39
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
40
|
(HPO:0003182)
|
Shallow acetabular fossae |
|
|
|
|
10 / 7739
|
|
41
|
(HPO:0003264)
|
Deficiency of N-acetylglucosamine-1-phosphotransferase |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0003333)
|
Increased serum beta-hexosaminidase |
|
|
|
|
4 / 7739
|
|
43
|
(HPO:0003538)
|
Increased serum iduronate sulfatase activity |
|
|
|
|
4 / 7739
|
|
44
|
(HPO:0004236)
|
Irregular carpal bones |
|
|
|
|
3 / 7739
|
|
45
|
(HPO:0006162)
|
Soft tissue swelling of interphalangeal joints |
|
|
|
|
2 / 7739
|
|
46
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|