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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 partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
No hypotheses generated for this disease yet.
The autonomous pipeline will investigate this disease when evidence emerges.