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GENATLAS PHENOTYPE
last update : 22-09-2016
Symbol MCPH10
Location 20q13.12
Name microcephaly 10, primary
Corresponding gene ZNF335
Main clinical features
  • extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation
  • brain MRI showed extreme microcephaly with a simplified gyral pattern, absence of the corpus callosum, and delayed myelination, invisible basal ganglia, cerebral atrophy, brainstem hypoplasia, and cerebellar atrophy
  • other features included arthrogryposis, joint contractures, and increased tone and spasticity
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)