Syndrome with 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) located at 4pter. This is the first example of an amplified CNV being associated with a Mendelian disorder. Transmission is autosomal dominant.
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No extended properties.
Concept Alternate Designations
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Concept Designation Description
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PHIN Preferred Term Flag
Code Flag
3498180013
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome