" /> Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly - CISMeF





Preferred Label : Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fuhrmann syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 7A gene (WNT7A, 601570.0002);

Prefixed ID : #228930;

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29/07/2025


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