ReNU syndromeepilepsydevelopmental delayRNU4-2
…y, epilepsy, short stature and distinctive dysmorphic features. ReNU syndrome accounts for 0.4–0.5% of all cases of developmental delay, and …
Entity family
Named diseases, disorders, syndromes, injuries, and health conditions. Examples include epilepsy, diabetes, stroke.
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…y, epilepsy, short stature and distinctive dysmorphic features. ReNU syndrome accounts for 0.4–0.5% of all cases of developmental delay, and …
…7%) with brain MRIs. Pathogenic variants cluster outside of the ReNU syndrome ‘critical regions’, within the Stem II region, k-turn region, a…