" /> Elsahy-waters syndrome - CISMeF





Preferred Label : Elsahy-waters syndrome;

Symbol : ESWS;

CISMeF acronym : ESWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachioskeletogenital syndrome; Bsg syndrome; Hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cadherin-11 gene (CDH11, 600023.0001);

Prefixed ID : #211380;

Details


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28/04/2025


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