A disease conceptual model for Champ1-related disorder
Purpose: CHAMP1-related disorder is a rare neurodevelopmental condition caused by pathogenic variants in the CHAMP1 gene. While clinical features are described in the medical literature, a comprehensive understanding of the disorder from the caregiver perspective has not been published.openaire +1 more source
A disease conceptual model for syngap1-related neurodevelopmental disorders
SYNGAP1-related disorders are rare neurodevelopmental and epileptic encephalopathies that were first identified in 2009. These disorders are known to manifest with a great range of clinical presentations and neurodevelopmental trajectories; however, the impacts of symptoms are not well understood.openaire +1 more source
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