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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 139450
This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
So far, it has been described in only one family.
The phenotype is associated with the presence of five copies of a copy-number- variable region (CNV) localised to 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder.
Transmission is autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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