RNU4ATAC spectrum disorder
Findings
No curated finding names RNU4ATAC spectrum disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic disease characterized by growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement. The term includes Microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Taybi-Linder syndrome, Lowry-Wood syndrome, and Roifman syndrome.
Definition from the Mondo Disease Ontology (MONDO:0100558), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:34016HGNC:34016
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · Broad Center for Mendelian Genomics · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: RNU4ATAC spectrum disorder
- Also called
- RNU4atac-opathyRNU4ATAC-related disorder