Article
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clinical genetics - 1 Oct 2021
Palmer Elizabeth E, Whitton Chloe, Hashem Mais O, Clark Robin D, Ramanathan Subhadra, Starr Lois J, Velasco Danita, De Dios John Karl, Singh Emily, Cormier-Daire Valerie, Chopra Maya, Rodan Lance H, Nellaker Christoffer, Lakhani Shenela, Mallack Eric J, Panzer Karin, Sidhu Alpa, Wentzensen Ingrid M, Lacombe Didier, Michaud Vincent, Alkuraya Fowzan S
Abstract excerpt
We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the "HX motif" of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered as being affected by the syndromic condition of congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA), distinct from...
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