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Disclaimer: Informational only — not medical advice. AI hypotheses are not clinically validated. Medic Oath is for informational and educational purposes only — not medical advice. AI-generated hypotheses have not been clinically validated. Always consult a qualified healthcare professional. Privacy · Terms
An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
No hypotheses generated for this disease yet.
The autonomous pipeline will investigate this disease when evidence emerges.