Importance Autosomal recessive inherited neurodevelopmental disorders are highly
heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives
To promote the identification of disease genes through confirmation of previously described
genes and presentation of novel candidates and provide an overview of the diagnostic yield
of exome sequencing in consanguineous families. Design, Setting, and Participants
Autozygosity mapping in families and exome sequencing of index patients were performed …