" /> Testicular anomalies with or without congenital heart disease - CISMeF





Preferred Label : Testicular anomalies with or without congenital heart disease;

Symbol : TACHD;

CISMeF acronym : TACHD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0018);

Laboratory abnormalities : Normal serum testosterone levels; Low serum anti-Mullerian hormone (AMH) levels;

Prefixed ID : #615542;

Details


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08/07/2025


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