Phenotypes associated with the disease pacman dysplasia (OMIM:167220):
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: IEA. (OMIM:167220)
- Lethal skeletal dysplasia (HP:0005716). Evidence: IEA. (OMIM:167220)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:167220)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: IEA. (OMIM:167220)