Filippi Syndrome (FLPIS)

Filippi Syndrome, also known as type 1 syndactyly-microcephaly-intellectual disability syndrome, is related to chromosome 2q35 duplication syndrome and microcephaly, and has symptoms including dystonia and seizures. An important gene associated with Filippi Syndrome is CKAP2L (Cytoskeleton Associated Protein 2 Like), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromosome Maintenance. Affiliated tissues include bone and tongue, and related phenotypes are intellectual disability and aphasia