Genes involved: HNF1B
Inheritance: autosomal dominant
Clinical findings include:
(1) congenital abnormalities of the kidney and urinary tract (cystic dysplasia of the kidneys, renal dysplasia, renal hypoplasia, single kidney, horseshoe kidney, poor cortico-medullary differentiation, collecting system abnormalities)
(2) tubulointerstitial renal disease (17q12 nephropathy, with hypomagnesemia, hypokalemia and reduced urine concentrating ability)
(3) diabetes (maturity-onset diabetes of the young, MODY)
(4) developmental delay and intellectual disability
(5) autism spectrum disorder
(6) other neuropsychiatric disorders (bipolar, schizophrenia)
(7) Mullerian aplasia in females (Mayer-Rokitansky-Hauser syndrome)
(8) genital anomalies in males (cryptorchidism, phimosis, urethral stenosis, hypospadias)
(9) liver abnormalities
(10) eye abnormalities (strabismus, nystagmus, hypermetropia, cataracts, coloboma)
Dysmorphic features:
(1) high forehead
(2) frontal bossing
(3) depressed nasal bridge
(4) deep set eyes
(5) downslanting palpebral fissures
(6) high-arched eyebrows
