<p>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.</p>

Ciliopathies Exome Sequencing Initiative

Congenital Abnormalities study with SNP/CNV Genotypes (NGS), WXS data on dbGaP (2,569 participants)

Ciliopathies Exome Sequencing Initiative

Description

Applying For Access

Summary