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Keyword Primary microcephaly

UniProtKB (11) rdf/xml obo
DefinitionProtein which, if defective, causes primary microcephaly. This is a neurodevelopmental condition characterized by a head circumference more than 3 standard deviations below the age-related 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.
CategoryDisease
GraphicalPrimary microcephalyDisease