Saldino-Mainzer syndrome

Saldino-Mainzer syndrome is an autosomal recessive disorder characterized by renal dysplasia, retinitis pigmentosa, cerebellar ataxia and skeletal dysplasia.

The disease is based on a mutation in the IFT140 gene.

Saldino-Mainzer syndrome is an autosomal recessive disorder characterized by renal dysplasia, retinitis pigmentosa, cerebellar ataxia and skeletal dysplasia.

The disease is based on a mutation in the IFT140 gene.