Primary microcephaly refers to the clinical finding of a head circumference more than 3 standard deviations below the mean for the same age and sex, present at birth or in the first months of life. It is a static anomaly of brain development consisting of a simplification of the cerebral cortical gyration pattern and a slight reduction in the volume of the white matter, but a normal brain architecture, without alterations in neuronal migration. People with this condition almost always have mental retardation. Additional clinical features may include short stature or seizures.
Through ClientSite you can filter variants and download your reports