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Disclaimer: Informational only โ not medical advice. AI hypotheses are not clinically validated. Medic Oath is for informational and educational purposes only โ not medical advice. AI-generated hypotheses have not been clinically validated. Always consult a qualified healthcare professional. Privacy ยท Terms
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.
No hypotheses generated for this disease yet.
The autonomous pipeline will investigate this disease when evidence emerges.