|
1
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
6
|
(HPO:0012371)
|
Hyperplasia of midface |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
8
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
9
|
(HPO:0002224)
|
Woolly hair |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
11
|
(HPO:0011073)
|
Abnormality of dental color |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
12
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0000679)
|
Taurodontia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
16
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
17
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
19
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
20
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
21
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
22
|
(HPO:0001808)
|
Fragile nails |
|
|
|
|
21 / 7739
|
|
23
|
(OMIM)
|
Thin enamel |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Small and widely spaced teeth |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Pitted teeth |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Periapical abscesses |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Increased bone density, mild-moderate (skull, spine, long bones) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Obliteration of calvarial diploe |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Poorly pneumatized mastoids |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Kinky hair |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0009119)
|
Aplasia/Hypoplasia of the frontal sinuses |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
33
|
(HPO:0000264)
|
Abnormality of the mastoid |
|
|
|
|
1 / 7739
|