Phenotypes associated with the disease autosomal recessive osteopetrosis 6 (OMIM:611497):
- Osteopetrosis (HP:0011002): Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. Evidence: PCS. Frequency: 2/2. (PMID:17404618)
- 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: PCS. (PMID:17404618)
- Dense metaphyseal bands (HP:0100959): Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:17404618)
- Cortical sclerosis of the iliac wing (HP:0033701): Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. Evidence: PCS. Frequency: 1/1. (PMID:17404618)
- Erlenmeyer flask deformity of the femurs (HP:0004975): Flaring of distal femur. Evidence: PCS. Onset: Juvenile onset (HP:0003621). (PMID:17404618)