Ciliopathies Exome Sequencing Initiative

Study ID Alternative Stable ID Type
phs000288 Case Set

Study Description

The study is aimed at identifying new genes involved in pediatric brain disorders from inbred families originating predominantly in the Middle East. Each patient analyzed to date has a specific and highly unique neurodevelopmental disorder that is likely to be recessive in nature. Many patients have one of the diseases along the "ciliopathy" spectrum of diseases, with evidence of kidney failure, retinal blindness and cerebellar ataxia.

Archive Link Archive Accession
dbGaP phs000288

Who archives the data?

There are no publications available