Disorders

Mainzer-Saldino Syndrome

Synonym(s): Conorenal Syndrome, MZSDS, Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia

OMIM

Gene	Locus	Protein
IFT140	16p13.3	Intraflagellar transport protein 140 homolog

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.