|
1
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
6
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0001188)
|
Hand clenching |
|
|
|
|
9 / 7739
|
|
9
|
(OMIM)
|
Chin grooved |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Congenital hypoplasia |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|