home > bioproject > PRJNA74825
identifier PRJNA74825
type bioproject
organism Homo sapiens
title Ciliopathies Exome Sequencing
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.
data type Phenotype or Genotype
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