| Main clinical features
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four patients with a common segment spanning 3.52 Mb within the 6q25.2-q25.3 region with microcephaly, developmental delay, dysmorphic features and hearing loss ; agenesis of the corpus callosum in 2/4 (PMID: 19034313))
haploinsufficiency of ARID1B is associated with CC abnormalities, intellectual disability, severe speech impairment, and autism. Our findings emphasize that ARID1B is important in human brain development and function in general, and in the development of CC and in speech development in particular.PMID: 21801163 |