- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:23731537)
- Myofibromatosis (HP:0020135): A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. Evidence: PCS. (PMID:23731537)
- Fibroma (HP:0010614): Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. Evidence: PCS. (PMID:23731537)
- 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: PCS. (PMID:23731537)
These phenotypes are associated with the disease myofibromatosis, infantile, 1 (OMIM:228550).