Table 1.

HNF1B-Associated Phenotypes

Typical HNF1B-Associated Phenotypes	Phenotype of Current Case
1. Neurologic features: autism spectrum disorders; cognitive impairment	On medication for treatment of depression
2. Abnormal liver function: asymptomatic increase in liver enzyme levels; neonatal cholestasis	None
3. Maturity-onset diabetes of the young type 5 (MODY5)	Patient had mild decrease in glucose tolerance; father had type 2 diabetes
4. Pancreatic hypoplasia: hypoplasia of body and tail of pancreas with slightly atrophic head; pancreatic exocrine dysfunction	Patient has pancreatic hypoplasia of body and tail
5. Developmental kidney disease: bilateral hyperechogenic kidney on prenatal ultrasonography; kidney cysts; single kidney; kidney hypoplasia; kidney dysplasia; other (horseshoe or duplex kidneys, etc)	Patient has bilateral kidney cysts; daughter has agenesis of right kidney and cysts in left kidney
6. Genital tract malformations	None
7. Hypomagnesemia	None
8. Hyperuricemia and early-onset gout	None

Abbreviation: HNF1B, hepatocyte nuclear factor 1β.