1
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
2
|
(HPO:0000269)
|
Prominent occiput |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
3
|
(HPO:0000325)
|
Triangular face |
Frequent [Orphanet]
|
|
|
|
91 / 7739
|
4
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
5
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
6
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
7
|
(HPO:0000592)
|
Blue sclerae |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
8
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
9
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
10
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
11
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
12
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
14
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
16
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
17
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
18
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
19
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
20
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
21
|
(HPO:0002645)
|
Wormian bones |
Occasional [Orphanet]
|
|
|
|
65 / 7739
|
22
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
23
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
24
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
25
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
26
|
(HPO:0002983)
|
Micromelia |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
27
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
28
|
(HPO:0003100)
|
Slender long bone |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
29
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
30
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
31
|
(HPO:0004306)
|
Abnormality of the endocardium |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
32
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
33
|
(HPO:0004331)
|
Decreased skull ossification |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
34
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
35
|
(HPO:0010299)
|
Abnormality of dentin |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
36
|
(HPO:0011073)
|
Abnormality of dental color |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
37
|
(HPO:0100761)
|
Visceral angiomatosis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
38
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
39
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
40
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
41
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
42
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
43
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
44
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
45
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
46
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
47
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
48
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
49
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
50
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
51
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|