|
1
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000585)
|
Band keratopathy |
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
6
|
(HPO:0001995)
|
Hyperchloremic acidosis |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0002049)
|
Proximal renal tubular acidosis |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0004910)
|
Bicarbonate-wasting renal tubular acidosis |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0005546)
|
Increased red cell osmotic resistance |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
11
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
12
|
(OMIM)
|
Normal distal tubule acid excretion |
|
|
|
|
1 / 7739
|