Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive 454 / 7739
2
 (HPO:0011968) Feeding difficulties 240 / 7739
3
 (HPO:0002024) Malabsorption Very frequent [Orphanet] 142 / 7739
4
 (HPO:0009830) Peripheral neuropathy Frequent [Orphanet] 206 / 7739
5
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
6
 (HPO:0100825) Cheilitis Very frequent [Orphanet] 20 / 7739
7
 (HPO:0002039) Anorexia Very frequent [Orphanet] 62 / 7739
8
 (HPO:0002719) Recurrent infections 107 / 7739
9
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
10
 (HPO:0001889) Megaloblastic anemia Very frequent [Orphanet] 28 / 7739
11
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
12
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
13
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
14
 (HPO:0001876) Pancytopenia Occasional [Orphanet] 89 / 7739
15
 (HPO:0001879) Abnormality of eosinophils Occasional [Orphanet] 20 / 7739
16
 (HPO:0000206) Glossitis Very frequent [Orphanet] 9 / 7739
17
 (HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
18
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
19
 (HPO:0002715) Abnormality of the immune system Very frequent [Orphanet] 46 / 7739
20
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
21
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
22
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
23
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] 56 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0001263) Global developmental delay 853 / 7739
26
 (HPO:0000155) Oral ulcer 9 / 7739
27
 (HPO:0000737) Irritability 93 / 7739
28
 (HPO:0001251) Ataxia 413 / 7739
29
 (HPO:0001252) Muscular hypotonia 990 / 7739
30
 (HPO:0001324) Muscle weakness 859 / 7739
31
 (HPO:0001875) Neutropenia 83 / 7739
32
 (HPO:0001882) Leukopenia 51 / 7739
33
 (HPO:0002014) Diarrhea 225 / 7739
34
 (HPO:0002135) Basal ganglia calcification 37 / 7739
35
 (HPO:0002305) Athetosis 31 / 7739
36
 (HPO:0004851) Folate-responsive megaloblastic anemia 1 / 7739
37
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
38
 (HPO:0100660) Dyskinesia 19 / 7739
39
 (OMIM) Folate malabsorption 1 / 7739
40
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
41
 (HPO:0010547) Muscle flaccidity 466 / 7739
42
 (MedDRA:10057870) Head lag 3 / 7739
43
 (OMIM) Delayed development if untreated 1 / 7739
44
 (OMIM) Mental retardation if untreated 5 / 7739
45
 (OMIM) Increased susceptibility to pneumocystis and cytomegalovirus infections 1 / 7739
46
 (OMIM) Hypoimmunoglobulinemia 1 / 7739
47
 (OMIM) Decreased serum folate 1 / 7739
48
 (OMIM) Decreased CSF folate 1 / 7739
49
 (OMIM) Low plasma methionine 1 / 7739
50
 (OMIM) Increased urinary formiminoglutamic acid (FIGLU) 1 / 7739
51
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
52
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
53
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
54
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
55
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
56
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
57
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
58
 (HPO:0003593) Infantile onset 249 / 7739