Table 1.
Age at onset | Manifestation |
---|---|
Prenatal | Cataract |
Elevated alpha-fetoprotein | |
Neonatal | Cataract |
Muscle hypotonia | |
Absent deep tendon reflexes | |
Elevated creatinine kinase/lactate dehydrogenase | |
Low-molecular-weight proteinuria | |
1–3 months | Fanconi syndrome |
Infancy | Glaucoma |
Growth retardation | |
Developmental delay | |
Childhood | Behavioral abnormalities |
Corneal scarring, keloids | |
Tubulointerstitial fibrosis/glomerulosclerosis | |
Adolescence | Scoliosis |
Adulthood | Arthropathy |
End-stage renal disease | |
No specific age | Convulsions |
Platelet dysfunction |