Conditions / Syndrome
pseudo-TORCH syndrome 1
info · Syndrome
A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome
A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2.
Signs and symptoms
- Seizure
- Global developmental delay
- Hyperreflexia
- Increased CSF protein concentration
- Hypotonia
- Sloping forehead
- Long philtrum
- Decreased liver function
- Anteverted nares
- Profound intellectual disability
Also known as: BLC-PMG; BLCPMG; Baraitser-Brett-Piesowicz syndrome; Baraitser-Reardon syndrome; PTORCH1