|
1
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
2
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0008388)
|
Abnormality of the toenails |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
11
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
Occasional [HPO:probinson]
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0000790)
|
Hematuria |
|
|
|
|
106 / 7739
|
|
14
|
(HPO:0001508)
|
Failure to thrive |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
16
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
17
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
|
18
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
19
|
(HPO:0003218)
|
Oroticaciduria |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0003267)
|
Reduced orotidine 5-prime phosphate decarboxylase activity |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0003339)
|
Pyrimidine-responsive megaloblastic anemia |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0003526)
|
Orotic acid crystalluria |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0004447)
|
Poikilocytosis |
|
|
|
|
16 / 7739
|
|
24
|
(HPO:0004826)
|
Folate-unresponsive megaloblastic anemia |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0005435)
|
Impaired T cell function |
Occasional [HPO:probinson]
|
|
|
|
9 / 7739
|
|
26
|
(HPO:0011273)
|
Anisocytosis |
|
|
|
|
8 / 7739
|
|
27
|
(OMIM)
|
Orotic acid urinary obstruction |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
|
|
28 / 7739
|
|
29
|
(OMIM)
|
Low to normal reticulocyte count |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Hypochromia |
|
|
|
|
6 / 7739
|
|
31
|
(MedDRA:10035530)
|
Platelet count normal |
|
|
|
|
9 / 7739
|
|
32
|
(OMIM)
|
T-cell dysfunction, variable (in some patients) |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
35
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
36
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|