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Article

Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.

Clinical genetics - 1 May 2023

Alvarez Carolina, Grimmel Mona, Ebrahimi-Fakhari Darius, Paul Victoria G, Deininger Natalie, Riess Angelika, Haack Tobias, Gardella Elena, Møller Rikke S, Bayat Allan

Abstract excerpt

Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range: 6-22 years) and provide a comprehensive review of the literature. The clinical spectrum was broad, including mild to profound global developmental delay; global or motor regression in...

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PMID: 36453471
DOI: 10.1111/cge.14275

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