Study
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?
