Clinical features
Mutations in RTTN cause a distinctive phenotypic pattern of congenital anomalies characterized mainly by microcephaly, lissencephaly, polymicrogyria, brain atrophy, and primordial dwarfism. The clinical features of the affected individuals may also include renal ectopia, renal agenesis, hypospadias, cryptorchidism, joint contractures, and intestinal atresia.
Prevalence
The prevalence of RTTN-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
RTTN-related syndrome is inherited in an autosomal recessive manner.