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Table 1 A depiction of clinical symptoms associated with MCPH

From: Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

MCPH features associated with Apparent phenotype MCPH features associated with MRI-based/cellular phenotype
Microcephaly (at least 2 SD below the mean) at birth, mild to severe, non-progressive mental retardation (borderline IQ is possible). Reduction of cerebral cortical volume (neuronal proliferation defect) and simplification of gyral pattern in most cases
Epilepsy/fits/seizures are very rare but cannot exclude the diagnosis (ASPM) Premature chromosome condensation in some cases with increased prophase-like cells (MCPH1)
Sloping forehead is although common but is not always associated Pachygyria with cortical thickening as well as hypoplasia/agenesis of the corpus callosum (neuronal migration defect) in some cases (ASPM, WDR62)
Delay in early motor milestones (Speech delay is common) In few cases Lissencephaly, schizencephaly, polymicrogyria and, cerebellar hypoplasia have also been observed (WDR62)
Some times aggressive but otherwise have a happy effect (easy to handle)  
Short stature in some cases (MCPH1)