ATXN7L3-related developmental delay, hypotonia and facial dysmorphism
A neurodevelopmental disorder caused by variation in the ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. Other phenotypes observed less frequently include feeding difficulties, seizures, brain MRI abnormalities, and structural cardiac abnormalities
MONDO:0100500
Mendelian neurodevelopmental disorder
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