|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001087)
|
Congenital glaucoma |
|
|
|
|
12 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
6
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
7
|
(HPO:0001691)
|
Muscular subvalvular aortic stenosis |
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
9
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
10
|
(HPO:0001953)
|
Diabetic ketoacidosis |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
12
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
|
|
26 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0003115)
|
Abnormal EKG |
|
|
|
|
44 / 7739
|
|
15
|
(HPO:0003116)
|
Abnormal echocardiogram |
|
|
|
|
33 / 7739
|
|
16
|
(HPO:0003133)
|
Abnormality of the spinocerebellar tracts |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0003209)
|
Decreased pyruvate carboxylase activity |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0003232)
|
Mitochondrial malic enzyme reduced |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
20
|
(HPO:0005157)
|
Concentric hypertrophic cardiomyopathy |
|
|
|
|
5 / 7739
|
|
21
|
(HPO:0007078)
|
Decreased amplitude of sensory action potentials |
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0011397)
|
Abnormality of the dorsal column of the spinal cord |
|
|
|
|
3 / 7739
|
|
23
|
(HPO:0011441)
|
Abnormality of the medulla oblongata |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Incoordined limb movements |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Impaired position sense |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Hypoactive knee and ankle jerks |
|
|
|
|
3 / 7739
|
|
27
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
28
|
(OMIM)
|
Abnormal motor and sensory nerve conduction |
|
|
|
|
4 / 7739
|
|
29
|
(OMIM)
|
Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Low pyruvate carboxylase activity in liver and cultured fibroblasts |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
32
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|