|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
3
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
|
|
28 / 7739
|
|
4
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
5
|
(HPO:0003612)
|
Positive ferric chloride test |
|
|
|
|
2 / 7739
|
|
6
|
(HPO:0004821)
|
Hypersegmentation of neutrophil nuclei |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Physical retardation |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Formiminoglutamic aciduria |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Glutamate formiminotransferase deficiency |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Hyperfolicacidemia |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|