autosomal recessive amelia
Findings
No curated finding names autosomal recessive amelia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive amelia is characterized by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non consanguineous parents.
Definition from the Mondo Disease Ontology (MONDO:0011054), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- AmeliaMondoHP:0009827
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.
- TBX4HGNC:11603
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: autosomal recessive amelia
- Also called
- Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome