|
1
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
3
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
7
|
(OMIM)
|
Low bone density |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Lack of bone modeling |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Diminished calvarial mineralization |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Vertebral fractures |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Multiple fractures of extremities |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Bowing of upper extremities |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Bowing of lower extremities |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Shortening of upper extremities |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Shortening of lower extremities |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hypermobility of joints |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Marked bilateral angulation of the proximal femur |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10048409)
|
Brain malformation |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Unilateral cerebellar hypoplasia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Congenital absence of the vermis |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Pontine hypoplasia |
|
|
|
|
8 / 7739
|
|
22
|
(OMIM)
|
Hypoplasia of the mesencephalic tectum |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Small anterior commissure |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Hypoplasia of the optic chiasm |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Hypoplasia of the hypothalamus |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Closed-lip schizencephaly |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Type 1 Chiari malformation |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|