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Developmental delay and seizures with or without movement abnormalities
DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017). [from OMIM]
Retinitis pigmentosa 59
Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene. [from MONDO]
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