A neurodevelopmental disorder caused by variation in the CBX1 gene. This disorder is characterised by global motor and language developmental delay, intellectual disability, hypotonia, autism spectrum disorder, and variable dysmorphic features.
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microcephaly and chorioretinopathy
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microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
autosomal dominant primary microcephaly
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Prader-Willi syndrome
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Smith-Magenis syndrome
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microcephalic osteodysplastic primordial dwarfism type I
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