De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures

Background FRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities. Objectives We describe 2 patients presenting with childhood‐onset ataxia, nystagmus, and seizures carrying pathogenic de novo FRMD5 variants. Weighted gene co‐expression n...

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