- Acrocyanosis (HP:0001063): Bluish discoloration of the skin of the hands or feet. Evidence: TAS. (OMIM:123540)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: IEA. (OMIM:123540)
- Transient nephrotic syndrome (HP:0008695). Evidence: IEA. (OMIM:123540)
- 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:123540)
These phenotypes are associated with the disease cryofibrinogenemia, familial primary (OMIM:123540).