1
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
2
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
3
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
4
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
5
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
6
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
8
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
9
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
10
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0000670)
|
Carious teeth |
Frequent [Orphanet]
|
|
|
|
145 / 7739
|
13
|
(HPO:0000234)
|
Abnormality of the head |
|
|
|
|
4 / 7739
|
14
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
15
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
16
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
17
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
18
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
19
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
20
|
(HPO:0004979)
|
Metaphyseal sclerosis |
|
|
|
|
5 / 7739
|
21
|
(HPO:0005871)
|
Metaphyseal chondrodysplasia |
|
|
|
|
10 / 7739
|
22
|
(HPO:0006385)
|
Short lower limbs |
|
|
|
|
8 / 7739
|
23
|
(HPO:0006409)
|
Progressive leg bowing |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Normal skull |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Widened epiphyses |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Sclerotic, widened metaphyses |
|
|
|
|
1 / 7739
|
27
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|