Renal artery stenosis in some cases and renal cystic dysplasia. Bladder diverticula, kidney aplasia or hypoplasia, kidney duplication, horseshoe kidney, dystopic kidney, renal artery stenosis, hydronephrosis, megaureter, stenosis of ureteropelvic junction, vesicoureteral reflux, and urinary tract infection. Hypercalcemia in most instances, frequently disappearing during the second year of life, and occasional diabetes mellitus. Attention deficit disorder with occasional autism, impulsiveness, and destructive behavior. Most patients have difficulty in telling time or making change.
Some cases are familial but most are sporadic.
Listed MIM in the autosomal dominant catalog. Mapped to the long arm of chromosome 7.