Table 1.

RNU4atac-opathy: Phenotypic Spectrum Associated with Biallelic RNU4ATAC Pathogenic Variants

SeverityPhenotype(s)
Most severe 1Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI) / Taybi-Linder syndrome 2
Variable severity depending on system involvement 1Lowry-Wood syndrome 2
Roifman syndrome 2
Undefined; variable findings not aligned with historically defined clinical phenotypes
1.

See Table 2.

2.

Included in the "primordial dwarfism and slender bones" group of the 2019 revision of the "Nosology and Classification of Genetic Skeletal Disorders" [Mortier et al 2019].

From: RNU4atac-opathy

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