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An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, facial dysmorphism, and behavioral manifestations including autistic-like behavior, self-injurious behavior, fear of social interaction, and poor concentration. Additional features are highly variable and can include seizures, short stature, feeding difficulties, and skin abnormalities.




Neurodevelopmental disorder with impaired speech and dysmorphic features


Mental retardation


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