|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
13
|
(HPO:0001996)
|
Chronic metabolic acidosis |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
15
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
16
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
17
|
(HPO:0002909)
|
Generalized aminoaciduria |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0003076)
|
Glycosuria |
|
|
|
|
32 / 7739
|
|
19
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
20
|
(HPO:0006560)
|
Biliary hyperplasia |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Bilateral simian creases |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
23
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
24
|
(OMIM)
|
Tubular renal failure |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Distal tubule calcification |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Defect in polymorphonuclear cell migration and intracellular killing |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Low set |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Death at age 4 months |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Biliary hyperplasia, extrahepatic and intrahepatic |
|
|
|
|
1 / 7739
|
|
30
|
(MedDRA:10023129)
|
Jaundice cholestatic |
|
|
|
|
3 / 7739
|