|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
7
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
13
|
(HPO:0001987)
|
Hyperammonemia |
|
|
|
|
50 / 7739
|
|
14
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
15
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
16
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
20
|
(OMIM)
|
ATP synthase deficiency |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased ATP synthase in muscle, heart, liver, and brain |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Intermittent 3-methylglutaconic aciduria |
|
|
|
|
3 / 7739
|