| autosomaal dominante polycysteuze nierziekte type 1 met tubereuze sclerose (aandoening) |
| autosomaal dominante polycysteuze nierziekte type 1 met tubereuze sclerose |
| syndroom van tubereuze sclerose, polycysteuze nierziekte en 'contiguous genes'
tubereuze sclerose en polycysteuze nierziekte en 'contiguous-gene syndrome'
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| Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
| Tuberous sclerosis, polycystic kidney disease contiguous gene syndrome
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| Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. |
