The phenotype of ADTKD-HNF1B consists of renal cysts and other renal abnormalities, including:
- Multicystic dysplastic kidneys
- Renal hypoplasia
- Renal interstitial fibrosis
- Renal agenesis
- Solitary kidney
- Horseshoe kidney
- Hypomagnesemia
- Hypokalemia
- Hypocalciuria
- Maturity-onset diabetes of the young (MODY) type 5
- Pancreatic hypoplasia
- Elevated liver enzymes
- Genital tract malformations
- Autism spectrum disorder (mainly in 17q12 deletions)
- Mental retardation (mainly in 17q12 deletions)
- Gout
- Hyperparathyroidism