Beckwith-Wiedemann syndrome due to CDKN1C mutation
MONDO:0016476Mondo
Findings
No curated finding names Beckwith-Wiedemann syndrome due to CDKN1C mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- CDKN1CHGNC:1786
- Strong · ClinGen · Autosomal dominant · 2026
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of