RNU4ATAC

2 article(s) in the watch · Constitutional genetics

RNU4ATAC encodes a minor-spliceosome small nuclear RNA. Biallelic variants cause a spectrum of developmental disorders.

InheritanceAutosomal recessive

Clinical spectrumMicrocephalic osteodysplastic primordial dwarfism type I, Roifman and Lowry-Wood syndromes

ManagementMultidisciplinary care; genetic counselling.

Curated publications

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed

RNU4ATAC-opathies — expanded clinical spectrum

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort

RNU4ATAC-opathy — large international cohort