- 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:268210)
- Embryonal rhabdomyosarcoma (HP:0006743). Evidence: IEA. (OMIM:268210)
These phenotypes are associated with the disease embryonal rhabdomyosarcoma (OMIM:268210).