|
1
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
5
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
6
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
10
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
11
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
13
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
15
|
(OMIM)
|
Eyelid myoclonus |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
17
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
20
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
22
|
(HPO:0007360)
|
Aplasia/Hypoplasia of the cerebellum |
|
|
|
|
10 / 7739
|
|
23
|
(OMIM)
|
Neuronal and vascular calcifications |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Hypersegmented neutrophils |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Normal serum folate |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Decreased CSF tetrahydrofolate and 5-methyltetrahydrofolate |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Decreased activity of dihydrofolate reductase |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|