1
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
2
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
3
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
|
|
61 / 7739
|
4
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
5
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
6
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
7
|
(HPO:0001238)
|
Slender finger |
|
|
|
|
23 / 7739
|
8
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
9
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
10
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
11
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
12
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
13
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
14
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
15
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
16
|
(HPO:0006290)
|
Discolored lateral incisors |
|
|
|
|
1 / 7739
|
17
|
(HPO:0006304)
|
Widely-spaced incisors |
|
|
|
|
2 / 7739
|
18
|
(HPO:0006339)
|
Conical mandibular incisor |
|
|
|
|
1 / 7739
|
19
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
20
|
(HPO:0009183)
|
Joint contracture of the 5th finger |
|
|
|
|
8 / 7739
|
21
|
(HPO:0010584)
|
Pseudoepiphyses |
|
|
|
|
3 / 7739
|
22
|
(HPO:0010585)
|
Small epiphyses |
|
|
|
|
16 / 7739
|
23
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
24
|
(OMIM)
|
Pointed lower central incisors |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Wide gap between upper and lower central incisors |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Broad, short femoral neck |
|
|
|
|
3 / 7739
|
27
|
(OMIM)
|
Mildly flared irregular metaphyses |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Small, flat irregularly ossified epiphyses |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Thin, tapering fingers |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Accentuated palmar creases |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Dry palmar skin |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|