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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease intellectual disability
Comorbidity C0010278|craniosynostosis
Sentences 1
PubMedID- 24339284 9 with asymmetric face, protruded unilateral forehead, asymmetric craniosynostosis, underdevelopment of sinuses, and intellectual disability had a 4.37 mb deletion that included the twist gene (omim 601622), which is consistent with diagnosis of saethre-chotzen syndrome.

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