has material basis in germline mutation in ATXN7L3 Mendelian neurodevelopmental disorder ATXN7L3-related developmental delay, hypotonia and facial dysmorphism https://github.com/monarch-initiative/mondo/issues/9633 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:0700355