Phenotypes associated with the disease autosomal recessive amelia (OMIM:601360):
- Amelia (HP:0009827): Congenital absence (aplasia) of one or more limbs. Evidence: IEA. (OMIM:601360)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:601360)