CHD8

Intellectual developmental disorder with autism and macrocephaly

2 article(s) in the watch · Constitutional genetics

Curated publications

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

Intellectual developmental disorder with autism and macrocephaly

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Rare diseases: inherited variants with incomplete penetrance

Automatic aggregation page — a clinical introduction may be added.