Beckwith-Wiedemann syndrome due to NSD1 mutation
MONDO:0016547Mondo
Findings
No curated finding names Beckwith-Wiedemann syndrome due to NSD1 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.
- NSD1HGNC:14234
- Definitive · G2P · Autosomal dominant · 2017
Where it sits
- A kind of