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Definition

An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay.

Acronym

PTORCH1

Synonyms

Band-like calcification with simplified gyration and polymicrogyria
Baraitser Brett Piesowicz syndrome
BLCPMG
Pseudo-TORCH syndrome

 
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