Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features
mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions,
nonsense variants and missense variants affecting the DNA-binding domain have been …

Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder
characterized by developmental abnormalities of the eye and central nervous system and by …

Huntington disease (HD) is associated with abnormal expansions of a CAG repeat close to
the 5′ end of the IT15 gene. We have assembled a set of 293 HD subjects whose ages of …

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

Background Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy
disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme …

Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …

We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of
RAB3GAP that results in abnormal splicing in a family with congenital cataracts …