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) | Â |
Short stature in some cases (MCPH1) | Â |