Brachydactyly
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.
Disease Alternative Name
brachydactyly mental retardation syndrome
chromosome 2q37 deletion syndrome
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