Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
MONDO:0016475Mondo
Findings
No curated finding names Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 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.
- IGF2HGNC:5466
- Definitive · G2P · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
- Also called
- Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15