PAX2 (renal coloboma syndrome) |
Autosomal dominant |
Renal hypoplasia (also renal dysplasia and VUR) |
Visual acuity defects with optic disc coloboma (also sensorineural hearing loss, Arnold Chiari malformation, seizures and joint laxity) |
HNF1B (Renal cysts and diabetes syndrome) |
Autosomal dominant |
Renal dysplasia, usually with cysts (also glomerulocystic disease, renal hypoplasia and hydonephrosis) |
Diabetes mellitus, hyperuricemia and gout, hypomagnesemia and uterus malformations (and possibly chromophobe renal tumor) |
KAL1 (X-linked Kallmann syndrome) |
X-linked recessive |
Renal agenesis (also renal dysplasia) |
Anosmia and hypogonadotrophic gonadism (also high arched palate, pes cavus, and synkinesia) |
EYA1/SIX1 (branchio-oto-renal syndrome) |
Autosomal dominant |
No typical manifestation but can include: renal agenesis, renal dysplasia, and calyceal cysts/diverticula |
Pre-auricular pits, branchial fistulae, and deafness |
FRAS/FREM2 (Fraser syndrome) |
Autosomal recessive |
Renal agenesis |
Cryptophthalmos, syndactyly, abnormal genitalia, laryngeal malformations, and anal stenosis |