Symptom Information: Sort according to HPO 

1
(HPO:0000738) Hallucinations 60 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0002066) Gait ataxia 327 / 7739
8
(HPO:0002311) Incoordination 84 / 7739
9
(HPO:0001252) Muscular hypotonia 990 / 7739
10
(HPO:0001324) Muscle weakness 859 / 7739
11
(HPO:0001254) Lethargy 104 / 7739
12
(HPO:0001259) Coma 65 / 7739
13
(HPO:0001276) Hypertonia 317 / 7739
14
(HPO:0001507) Growth abnormality 36 / 7739
15
(HPO:0001733) Pancreatitis 46 / 7739
16
(HPO:0001943) Hypoglycemia 131 / 7739
17
(HPO:0001946) Ketosis 17 / 7739
18
(HPO:0002013) Vomiting 191 / 7739
19
(HPO:0002181) Cerebral edema 19 / 7739
20
(HPO:0003128) Lactic acidosis 116 / 7739
21
(HPO:0008344) Elevated plasma branched chain amino acids 5 / 7739
22
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
23
(HPO:0011968) Feeding difficulties 240 / 7739
24
(OMIM) Mental retardation if untreated 5 / 7739
25
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
26
(HPO:0010547) Muscle flaccidity 466 / 7739
27
(OMIM) Brain MRI shows diffusion abnormalities 3 / 7739
28
(OMIM) White matter signal abnormalities in various brain regions 3 / 7739
29
(OMIM) Life-threatening metabolic decompensation 3 / 7739
30
(OMIM) Lactic acidosis in E3-deficiency 3 / 7739
31
(OMIM) Maple syrup urine odor 3 / 7739
32
(OMIM) Branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate) 3 / 7739
33
(OMIM) Elevated plasma alloisoleucine 3 / 7739
34
(OMIM) Positive urine DNPH screening test 3 / 7739