|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
3
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
6
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
7
|
(HPO:0005701)
|
Multiple enchondromatosis |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
10
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
Occasional [HPO:probinson]
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
13
|
(HPO:0002478)
|
Progressive spastic quadriplegia |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
15
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
17
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
18
|
(OMIM)
|
Posterior vertebral body radiolucencies |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Symmetric radiolucencies in long bone metaphyses |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
CNS calcifications, esp. basal ganglia, on CT scan |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
|
22
|
(OMIM)
|
Mental retardation, variable |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
24
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
25
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
27
|
(HPO:0002657)
|
Spondylometaphyseal dysplasia |
|
|
|
|
12 / 7739
|
|
28
|
(HPO:0004015)
|
Abnormality of radial metaphyses |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0004039)
|
Abnormality of ulnar metaphysis |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0005868)
|
Metaphyseal enchondromatosis |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0006491)
|
Abnormality of the tibial metaphysis |
|
|
|
|
1 / 7739
|