pseudo-TORCH syndrome
A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
MONDO:0006025
autosomal recessive disease
is_a
BLC-PMG
exact
BLCPMG
related
Baraitser Brett Piesowicz syndrome
related
Baraitser-Brett-Piesowicz syndrome
exact
Baraitser-Reardon syndrome
exact
band-like calcification with simplified gyration and polymicrogyria
exact
bilateral band-like calcification with polymicrogyria
exact
microcephaly - intracranial calcification - intellectual disability
related
microcephaly intracranial calcification
related
microcephaly-intracranial calcification-intellectual disability syndrome
exact
pseudo-TORCH syndrome
exact