|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
4
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
7
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
|
8
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
9
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
|
|
109 / 7739
|
|
10
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
12
|
(OMIM)
|
Deafness, early-onset |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Valvulopathy |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Muscle biopsy shows mitochondrial aggregates |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Coenzyme Q10 deficiency |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Decreased respiratory complex I+III and II+III activity |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|