Articles with "microcephaly ataxia" as a keyword



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Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum

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Published in 2022 at "Clinical Dysmorphology"

DOI: 10.1097/mcd.0000000000000426

Abstract: Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, and speech impairment. So far, only two… read more here.

Keywords: disorder microcephaly; neurodevelopmental disorder; disorder; microcephaly ataxia ... See more keywords