Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum
Sign Up to like & getrecommendations! 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
Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.807291
Abstract: ADPRHL2 gene mutations have been demonstrated as the cause of stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive genetic disorder characterized by an abnormal gait, intellectual disability, seizures, ataxia, other nervous… read more here.
Keywords: ataxia seizures; stress induced; novel compound; induced childhood ... See more keywords