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A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.
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