Human genes for pseudo-TORCH syndrome 1
pseudo-TORCH syndrome 1 [DOID:0050656]
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 OCLN on chromosome 5q13.2.
Synonyms: pseudo-TORCH syndrome 1, DOID:0050656, pseudoTORCH syndrome 1, band-like calcification with simplified gyration and polymicrogyria, Baraitser-Brett-Piesowicz syndrome ...
Linkouts: OMIM