Chromosome 2q37 Deletion Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations.

**Synonyms:** - BDMR - Brachydactyly Intellectual Disability Syndrome - Brachydactyly Mental Retardation Syndrome