- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: IEA. (OMIM:309050)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:309050)
These phenotypes are associated with the disease LUTHERAN SUPPRESSOR, X-LINKED (OMIM:309050).