Birbeck granule deficiency
MONDO:0013251Mondo
Findings
No curated finding names Birbeck granule deficiency 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.
- CD207HGNC:17935
- No Known Disease Relationship · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of