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1
A novel de novo heterozygous frameshift variant c.271delA (p.Thr91Profs*40) in the WDR26 gene was identified in a Chinese child with Skraban-Deardorff syndrome.
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2
Skraban-Deardorff syndrome is a rare autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delays, and various structural abnormalities.
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3
The clinical presentation of Skraban-Deardorff syndrome in the Chinese patient included developmental delay, hypotonia, and distinctive facial features without significant seizures.
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4
Delayed language development is emphasized as a typical clinical phenotype of Skraban-Deardorff syndrome, contrasting with the absence of major seizure symptoms in reported cases.
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5
The patient underwent rehabilitation training, including physical and speech therapy, but showed slow progress in developmental milestones.
