- Metaphyseal chondrodysplasia (HP:0005871): An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. Evidence: TAS. (OMIM:250300)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:250300)
- 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:250300)
These phenotypes are associated with the disease metaphyseal chondrodysplasia, Pena type (OMIM:250300).