Chromosome 14q11-Q22 Deletion Syndrome

Chromosome 14q11-Q22 Deletion Syndrome, also known as 14q11.2 microdeletion syndrome, is related to holoprosencephaly 8 and ectodermal dysplasia and immune deficiency, and has symptoms including muscle spasticity and seizures. An important gene associated with Chromosome 14q11-Q22 Deletion Syndrome is DEL14Q11Q22 (Chromosome 14q11-Q22 Deletion Syndrome). Affiliated tissues include eye and thyroid, and related phenotypes are depressed nasal bridge and hypertelorism