|
1
|
(HPO:0001332)
|
Dystonia |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0002039)
|
Anorexia |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
9
|
(HPO:0001733)
|
Pancreatitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
11
|
(HPO:0001874)
|
Abnormality of neutrophils |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
13
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
14
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
15
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
16
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001944)
|
Dehydration |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
19
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
20
|
(HPO:0000124)
|
Renal tubular dysfunction |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
21
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
22
|
(HPO:0100022)
|
Abnormality of movement |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
23
|
(HPO:0002170)
|
Intracranial hemorrhage |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
24
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
25
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
26
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
27
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
28
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
|
|
|
|
27 / 7739
|
|
29
|
(HPO:0002154)
|
Hyperglycinemia |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
31
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
32
|
(HPO:0005979)
|
Metabolic ketoacidosis |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0011695)
|
Cerebellar hemorrhage |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
35
|
(OMIM)
|
Recurrent episodes of vomiting |
|
|
|
|
3 / 7739
|
|
36
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
37
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
38
|
(OMIM)
|
Severe involvement of globus pallidus |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Delay in myelination |
|
|
|
|
3 / 7739
|
|
40
|
(OMIM)
|
Ischemic stroke in the basal ganglia (rare) |
|
|
|
|
4 / 7739
|
|
41
|
(OMIM)
|
Neonatal or infantile metabolic ketoacidosis |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Normal serum cobalamin |
|
|
|
|
7 / 7739
|
|
43
|
(OMIM)
|
Methylmalonyl-CoA mutase deficiency |
|
|
|
|
3 / 7739
|
|
44
|
(OMIM)
|
Low plasma free and total carnitine |
|
|
|
|
3 / 7739
|
|
45
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
46
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
47
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
49
|
(HPO:0004305)
|
Involuntary movements |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
50
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|