Chromosome 20q11-Q12 Deletion Syndrome (MRD11)

Chromosome 20q11-Q12 Deletion Syndrome, also known as intellectual developmental disorder, autosomal dominant 11, is related to enophthalmos. An important gene associated with Chromosome 20q11-Q12 Deletion Syndrome is EPB41L1 (Erythrocyte Membrane Protein Band 4.1 Like 1). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and intellectual disability, severe