DISEASES

Disease-gene associations mined from literature

JensenLab

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