Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Pseudo-TORCH syndrome 1 is an autoinflammatory disorder which is caused by autosmal recessive mutations of the OCLN gene. The disease starts antenatal and end lethal in infancy. Symptoms include intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and occasionally thrombocytopenia
The prevalence of all pseudo-TORCH syndromes is less than 1:1,000,000.
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