1
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
2
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
5
|
(HPO:0010299)
|
Abnormality of dentin |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
6
|
(HPO:0000444)
|
Convex nasal ridge |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
8
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
9
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
10
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
11
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
12
|
(HPO:0002763)
|
Abnormal cartilage morphology |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
13
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
14
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
15
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
16
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
17
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
18
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
19
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
20
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
21
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
22
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
23
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
24
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
25
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
26
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
27
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
28
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
29
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
30
|
(HPO:0100777)
|
Exostoses |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
31
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
32
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
33
|
(HPO:0002645)
|
Wormian bones |
Occasional [Orphanet]
|
|
|
|
65 / 7739
|
34
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
35
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
36
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
37
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
38
|
(HPO:0004439)
|
Craniofacial dysostosis |
|
|
|
|
3 / 7739
|
39
|
(HPO:0005665)
|
Massively thickened long bone cortices |
|
|
|
|
1 / 7739
|
40
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
41
|
(OMIM)
|
Thin cranial bone |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Small skull |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Frontoparietal and occipitoparietal suture depressions |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Poorly developed mandible |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
46
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
47
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
49
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|