|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
3
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
4
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
5
|
(HPO:0000980)
|
Pallor |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
8
|
(HPO:0001889)
|
Megaloblastic anemia |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0002039)
|
Anorexia |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
12
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
13
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
14
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
15
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
16
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
17
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
18
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
19
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
20
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
21
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
22
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
23
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
24
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
25
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
26
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
27
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
28
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
29
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
30
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
31
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
32
|
(HPO:0001907)
|
Thromboembolism |
|
|
|
|
15 / 7739
|
|
33
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
34
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
35
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
36
|
(HPO:0002156)
|
Homocystinuria |
|
|
|
|
12 / 7739
|
|
37
|
(HPO:0002160)
|
Hyperhomocystinemia |
|
|
|
|
10 / 7739
|
|
38
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
|
39
|
(HPO:0003145)
|
Decreased adenosylcobalamin |
|
|
|
|
10 / 7739
|
|
40
|
(HPO:0003153)
|
Cystathioninuria |
|
|
|
|
5 / 7739
|
|
41
|
(HPO:0003210)
|
Decreased methylmalonyl-CoA mutase activity |
|
|
|
|
7 / 7739
|
|
42
|
(HPO:0003223)
|
Decreased methylcobalamin |
|
|
|
|
11 / 7739
|
|
43
|
(HPO:0003286)
|
Cystathioninemia |
|
|
|
|
3 / 7739
|
|
44
|
(HPO:0003524)
|
Decreased methionine synthase activity |
|
|
|
|
9 / 7739
|
|
45
|
(HPO:0003658)
|
Hypomethioninemia |
|
|
|
|
6 / 7739
|
|
46
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
47
|
(HPO:0005575)
|
Hemolytic-uremic syndrome |
|
|
|
|
11 / 7739
|
|
48
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
49
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
50
|
(OMIM)
|
Vascular lesions |
|
|
|
|
1 / 7739
|
|
51
|
(MedDRA:10043645)
|
Thrombotic microangiopathy |
|
|
|
|
11 / 7739
|
|
52
|
(OMIM)
|
Thrombotic microangiopathic nephropathy |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
54
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
55
|
(OMIM)
|
Acute neurologic decompensation (in later-onset cases) |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Decreased cognition (later-onset) |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0000738)
|
Hallucinations |
|
|
|
|
60 / 7739
|
|
58
|
(MedDRA:10012221)
|
Deliria (incl confusion) |
|
|
|
|
2 / 7739
|
|
59
|
(MedDRA:10012219)
|
Deliria |
|
|
|
|
2 / 7739
|
|
60
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
61
|
(OMIM)
|
Homocysteinemia |
|
|
|
|
2 / 7739
|
|
62
|
(OMIM)
|
Uremia |
|
|
|
|
3 / 7739
|
|
63
|
(OMIM)
|
Normal serum cobalamin |
|
|
|
|
7 / 7739
|
|
64
|
(OMIM)
|
Decreased cobalamin in liver, kidney, and cultured fibroblasts |
|
|
|
|
1 / 7739
|
|
65
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
66
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
67
|
(HPO:0003593)
|
Infantile onset |
Typical [HPO:probinson]
|
|
|
|
249 / 7739
|
|
68
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|