- Abnormality of lysosomal metabolism (HP:0004356). Evidence: IEA. (OMIM:154570)
- 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:154570)
These phenotypes are associated with the disease mannose 6-phosphate receptor recognition defect, Lebanese type (OMIM:154570).