lethal arteriopathy syndrome due to fibulin-4 deficiency
MONDO:0017818Mondo
Findings
No curated finding names lethal arteriopathy syndrome due to fibulin-4 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.
- EFEMP2HGNC:3219
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of