| description | Protein which, if defective, causes primary microcephaly. This is a neurodevelopmental condition characterized by a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean, and absence of other syndromic features or significant neurological deficits. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Primary microcephaly is also known as true microcephaly or microcephaly vera |
