|
1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
2
|
(HPO:0001648)
|
Cor pulmonale |
|
|
|
|
16 / 7739
|
|
3
|
(HPO:0001667)
|
Right ventricular hypertrophy |
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
6
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
9
|
(HPO:0100750)
|
Atelectasis |
|
|
|
|
17 / 7739
|
|
10
|
(OMIM)
|
Increased plasma unesterified fatty acids |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Poor muscular development |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|