Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Background: The combination of microcephaly, pyramidal signs, abnormal corpus callosum, and intellectual disability presents a diagnostic challenge. We describe an autosomal recessive disorder characterized by microcephaly, pyramidal signs, thin corpus callosum, and intellectual disability.

Methods: We previously mapped the locus for this disorder to 8q23.