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SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.
ORPHA:139466Classification level: Disorder
The syndrome is lethal and has been described in three foetuses.
It is caused by homozygous missense mutations in the WNT4 gene.
It is transmitted as an autosomal recessive trait.
A summary on this disease is available in Deutsch (2008) Español (2008) Italiano (2008) Nederlands (2008) Português (2008)
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