|
1
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
6
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
7
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
9
|
(HPO:0003470)
|
Paralysis |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0005750)
|
Contractures of the joints of the lower limbs |
|
|
|
|
5 / 7739
|
|
12
|
(OMIM)
|
Distal joint contractures, lower limbs |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
14
|
(OMIM)
|
Forefoot adduction |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Forefoot supination |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Distal muscle weakness due to neuropathy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Distal muscle atrophy due to neuropathy |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Encephalopathic attacks, episodic, associated with infection |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Difficulty walking and running |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Lesions in the caudate and putamen seen on MRI |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Increased CSF lactate during acute episodes |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|