- 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:607200)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: IEA. (OMIM:607200)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: IEA. (OMIM:607200)
These phenotypes are associated with the disease thyroid dyshormonogenesis 6 (OMIM:607200).