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Microcephaly (autosomal recessive)

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Primary microcephaly is an autosomal recessive condition characterised by a sloping forehead, flat occiput, normal-sized face and protruding ears. Affected individuals usually develop moderate to severe mental retardation. Early motor development however, is usually normal, and the brain is morphologically normal on imaging.

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