Neuropediatrics. 48(3):135–142, JUN 2017

DOI: 10.1055/s-0037-1601448

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PMID: 28399591

Issn Print: 0174-304X

Publication Date: 2017/06/01


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Autosomal Recessive Primary Microcephaly (MCPH): An Update

Sami Zaqout;Deborah Morris-Rosendahl;Angela Kaindl;

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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.

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