|
1
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
2
|
(HPO:0011038)
|
Abnormality of renal resorption |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
9
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
10
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0002749)
|
Osteomalacia |
|
|
|
|
24 / 7739
|
|
12
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0002909)
|
Generalized aminoaciduria |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0003076)
|
Glycosuria |
|
|
|
|
32 / 7739
|
|
15
|
(HPO:0003109)
|
Hyperphosphaturia |
|
|
|
|
18 / 7739
|
|
16
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
17
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
18
|
(HPO:0003537)
|
Hypouricemia |
|
|
|
|
13 / 7739
|
|
19
|
(HPO:0004396)
|
Poor appetite |
|
|
|
|
7 / 7739
|
|
20
|
(HPO:0004915)
|
Impairment of galactose metabolism |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0012468)
|
Chronic acidosis |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thin limbs |
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Normal red cell galactokinase |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Normal red cell galactose-1-phosphate uridyltransferase |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
No cystinosis |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Impaired galactose metabolism |
|
|
|
|
1 / 7739
|