|
1
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
2
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
3
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
5
|
(HPO:0005750)
|
Contractures of the joints of the lower limbs |
|
|
|
|
5 / 7739
|
|
6
|
(OMIM)
|
Contractures of lower limbs |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Restrictive ventilatory insufficiency |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Thickened thoracic fascia |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Stony-hard induration of skin and deeper tissue |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|