Journal
NEUROPEDIATRICS
Volume 48, Issue 3, Pages 135-142Publisher
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0037-1601448
Keywords
MCPH; microcephaly; intellectual disability
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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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