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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2876
Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.
It has been described in two sibs. One of the sibs also had a myelomeningocele.
The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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