|
1
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
2
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
4
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0001888)
|
Lymphopenia |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
8
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
13
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0001896)
|
Reticulocytopenia |
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
|
19
|
(HPO:0001980)
|
Megaloblastic bone marrow |
|
|
|
|
5 / 7739
|
|
20
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
21
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
22
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
23
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
24
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
25
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|
|
26
|
(MedDRA:10028124)
|
Mucosal ulceration |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Decreased IgG |
|
|
|
|
5 / 7739
|
|
28
|
(OMIM)
|
Normal serum cobalamin |
|
|
|
|
7 / 7739
|
|
29
|
(OMIM)
|
Normal serum folate |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Reduced unsaturated serum cobalamin binding capacity |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Abnormal Schilling test (not normalized by addition of intrinsic factor) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Transcobalamin II deficiency |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
34
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|