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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1390
This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).
It has been described in two brothers.
They also presented myopia and extinguished electroretinograms.
Several different modes of inheritance have been reported.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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