Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf10 gene product has been provisionally designated C7orf10 pending further characterization.
Synonyms: Chromosome 7 open reading frame 10, Dermal papilla derived protein 13, DERP13, FLJ11808, Hypothetical protein LOC79783, ORF19, Russel-Silver syndrome candidate, Uncharacterized protein C7orf10,CG010_HUMAN.