|
1
|
(HPO:0002928)
|
Decreased activity of the pyruvate dehydrogenase complex |
Very frequent [IBIS]
|
|
16049940
|
IBIS
|
10 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
16049940
|
IBIS
|
832 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
16049940
|
IBIS
|
459 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
16049940
|
IBIS
|
555 / 7739
|
|
5
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
16049940
|
IBIS
|
54 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
16049940
|
IBIS
|
413 / 7739
|
|
7
|
(HPO:0001266)
|
Choreoathetosis |
|
|
16049940
|
IBIS
|
57 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
16049940
|
IBIS
|
363 / 7739
|
|
9
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
16049940
|
IBIS
|
37 / 7739
|
|
10
|
(HPO:0002268)
|
Paroxysmal dystonia |
|
|
16049940
|
IBIS
|
11 / 7739
|
|
11
|
(HPO:0002307)
|
Drooling |
|
|
16049940
|
IBIS
|
43 / 7739
|
|
12
|
(HPO:0002465)
|
Poor speech |
|
|
16049940
|
IBIS
|
31 / 7739
|
|
13
|
(HPO:0006961)
|
Jerky head movements |
|
|
16049940
|
IBIS
|
3 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
16049940
|
IBIS
|
853 / 7739
|
|
15
|
(OMIM)
|
Decreased activity of the E2 subunit (lipoyl transacetylase, 608770) of the PDH |
|
|
16049940
|
IBIS
|
1 / 7739
|
|
16
|
(OMIM)
|
Decreased levels of the E2 subunit protein |
|
|
16049940
|
IBIS
|
1 / 7739
|
|
17
|
(HPO:0001348)
|
Brisk reflexes |
|
|
16049940
|
IBIS
|
15 / 7739
|
|
18
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
16049940
|
IBIS
|
21 / 7739
|
|
19
|
(HPO:0010862)
|
Delayed fine motor development |
|
|
16049940
|
IBIS
|
3 / 7739
|
|
20
|
(HPO:0001332)
|
Dystonia |
|
|
16049940
|
IBIS
|
197 / 7739
|
|
21
|
(HPO:0003128)
|
Lactic acidosis |
|
|
16049940
|
IBIS
|
116 / 7739
|
|
22
|
(HPO:0004900)
|
Severe lactic acidosis |
|
|
16049940
|
IBIS
|
5 / 7739
|
|
23
|
(HPO:0002453)
|
Abnormality of the globus pallidus |
|
|
16049940
|
IBIS
|
4 / 7739
|
|
24
|
(HPO:0000570)
|
Abnormality of saccadic eye movements |
|
|
16049940
|
IBIS
|
12 / 7739
|
|
25
|
(HPO:0007325)
|
Generalized dystonia |
|
|
16049940
|
IBIS
|
7 / 7739
|
|
26
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
16049940
|
IBIS
|
27 / 7739
|
|
27
|
(HPO:0002311)
|
Incoordination |
|
|
16049940
|
IBIS
|
84 / 7739
|
|
28
|
(HPO:0000486)
|
Strabismus |
|
|
16049940
|
IBIS
|
576 / 7739
|
|
29
|
(HPO:0003552)
|
Muscle stiffness |
|
|
16049940
|
IBIS
|
23 / 7739
|
|
30
|
(HPO:0001239)
|
Wrist flexion contracture |
|
|
16049940
|
IBIS
|
13 / 7739
|
|
31
|
(HPO:0007738)
|
Uncontrolled eye movements |
|
|
16049940
|
IBIS
|
3 / 7739
|
|
32
|
(MedDRA:10047920)
|
Wheelchair user |
|
|
16049940
|
IBIS
|
3 / 7739
|
|
33
|
(HPO:0012751)
|
Abnormal basal ganglia MRI signal intensity |
|
|
16049940
|
IBIS
|
4 / 7739
|