Symptom Information: Sort according to HPO 

1
(HPO:0000112) Nephropathy Very frequent [Orphanet] 92 / 7739
2
(HPO:0000787) Nephrolithiasis Very frequent [Orphanet] 78 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
4
(HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
5
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
6
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
7
(HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
8
(HPO:0004599) Absent or minimally ossified vertebral bodies Occasional [Orphanet] 18 / 7739
9
(HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(HPO:0000083) Renal insufficiency 232 / 7739
12
(HPO:0000121) Nephrocalcinosis 57 / 7739
13
(HPO:0000488) Retinopathy 75 / 7739
14
(HPO:0000648) Optic atrophy 238 / 7739
15
(HPO:0000790) Hematuria 106 / 7739
16
(HPO:0000965) Cutis marmorata 46 / 7739
17
(HPO:0001063) Acrocyanosis 56 / 7739
18
(HPO:0001138) Optic neuropathy 12 / 7739
19
(HPO:0001678) Atrioventricular block 59 / 7739
20
(HPO:0001942) Metabolic acidosis 81 / 7739
21
(HPO:0002653) Bone pain 75 / 7739
22
(HPO:0002756) Pathologic fracture 30 / 7739
23
(HPO:0003159) Hyperoxaluria 6 / 7739
24
(HPO:0004417) Intermittent claudication 10 / 7739
25
(HPO:0005315) Peripheral artery occlusive disease 7 / 7739
26
(HPO:0008672) Calcium oxalate nephrolithiasis 10 / 7739
27
(HPO:0009830) Peripheral neuropathy 206 / 7739
28
(HPO:0030507) Retinal crystals 1 / 7739
29
(HPO:0100758) Gangrene 25 / 7739