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 the OCLN gene on chromosome 5q13.2.
Synonyms: pseudo-TORCH syndrome 1, DOID:0050656, pseudoTORCH syndrome 1, BLC-PMG, BLCPMG ...
Linkouts: OMIM