The disorder is linked to a mutation in the Wnt4 gene. There is an intraexonic homozygous C to T transition at cDNA position 341. This leads to an alanine to valine residue substitution at amino acid position 114, a location highly conserved in all organisms, including zebrafish and Drosophila. A subsequent influence on mRNA stability leads to protein loss of function. WNT4 usually represses male sex development.
Serkal syndrome
Diabetic ketoacidosis
Alcoholic ketoacidosis
Hyperosmolar syndrome
Adrenal crisis
Flint water crisis
Newark water crisis
Waterhouse–Friderichsen syndrome