title: 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.
authors.affiliation: Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Campus Mitte, Berlin, Germany.|Center for Chronically Sick Children (Sozialpädiatrisches Zentrum), Charité - Universitätsmedizin Berlin, Berlin, Germany.|Berlin Institute of Health, Berlin, Germany.|Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany.
authors.forename: Sami
authors.initials: S
authors.lastname: Zaqout
authors.affiliation: Clinical Genetics and Genomics, Royal Brompton & Harefield NHS Foundation Trust, London, United Kingdom.|National Heart and Lung Institute, Imperial College London, London, United Kingdom.
authors.forename: Deborah
authors.initials: D
authors.lastname: Morris-Rosendahl
authors.affiliation: Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin, Campus Mitte, Berlin, Germany.|Center for Chronically Sick Children (Sozialpädiatrisches Zentrum), Charité - Universitätsmedizin Berlin, Berlin, Germany.|Berlin Institute of Health, Berlin, Germany.|Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany.
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D000818:Animals; D006801:Humans; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*