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SERKAL syndrome

Synonyms
46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SERKAL, WNT-4, WNT4
    Summary: Wnt family member 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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