intermediate severe Salla disease
MONDO:0017737Mondo
Findings
No curated finding names intermediate severe Salla disease 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.
- SLC17A5HGNC:10933
- Supportive · Orphanet · Autosomal recessive · 2021