lethal arthrogryposis-anterior horn cell disease syndrome
MONDO:0012750Mondo
Findings
No curated finding names lethal arthrogryposis-anterior horn cell disease syndrome 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.
- GLE1HGNC:4315
- Definitive · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: lethal arthrogryposis-anterior horn cell disease syndrome
- Also called
- congenital arthrogryposis with anterior horn cell diseaseLAAHDVuopala disease