Stimmler syndrome

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Stimmler syndrome is characterised by the association of microcephaly low birth weight and severe intellectual deficit with dwarfism small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine pyruvate and lactate levels in the blood.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Stimmler syndrome?

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