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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2172
This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.
It has been described in two sisters.
The mode of inheritance is likely to be autosomal recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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