Phenotypes associated with the disease megalodactyly (OMIM:155500):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:23100325)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: PCS. Frequency: 6/6. (PMID:23100325)
- Macrodactyly (HP:0004099): Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. Evidence: PCS. Frequency: 6/6. (PMID:23100325)