Autosomal Recessive Primary Microcephaly (MCPH): An Update

Abstract

Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. Inconsistent features include hyperactivity, an expressive speech disorder, and epilepsy. Here, we provide a brief overview on this rare disorder pertinent for clinicians.

Keywords

MCPH - microcephaly - intellectual disability

Authors' Contributions

All authors wrote and approved the final article.

• References

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