|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
7
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
9
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|