A neurodevelopmental disorder caused by variation in the RFX3 gene. This disorder is characterised by global developmental delay, intellectual disability, and behavioural abnormalities. Most patients present autism spectrum disorder and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include sleep difficulties, micro or macrocephaly, non-specific and non-recurrent dysmorphisms, and brain MRI abnormalities.
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microcephaly and chorioretinopathy
MONDO:0000181
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
autosomal dominant primary microcephaly
MONDO:0007988
Prader-Willi syndrome
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Smith-Magenis syndrome
MONDO:0008434
microcephalic osteodysplastic primordial dwarfism type I
MONDO:0008871