Characteristic | No | %a |
---|---|---|
Neurological involvement | ||
Mental development lags | 7 | 41 |
Muscle strength and tension decreased | 4 | 24 |
Convulsions | 4 | 24 |
Apnea | 2 | 12 |
Renal involvement | ||
End stage kidney disease (HD/PDb) | 6(4/2) | 35 |
Hematuria | 5 | 29 |
Albuminuria | 5 | 29 |
Diffuse renal disease | 4 | 24 |
Renal cystic lesions | 2 | 12 |
Enhanced echogenicity in parenchyma | 2 | 12 |
Facial defects | ||
Special facialfeatures, straight eyebrows | 1 | 6 |
Congenital cleft palate | 1 | 6 |
Ocular abnormalities | ||
Drooping eyelids | 2 | 12 |
Limited eye movement | 2 | 12 |
Wide bilateral eye distance, low ear position | 1 | 6 |
Limb abnormalities | ||
Polydactyly | 1 | 6 |
Ulnar skin tag on metacarpophalangeal joint | 1 | 6 |
Liver involvement | ||
Liver function damage | 2 | 12 |
Liver enlargement, echo thickening | 1 | 6 |
other | ||
Tongguan Palm | 1 | 6 |