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Up to: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Stimmler syndrome
Stimmler syndrome is characterized 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.
This condition has no sub-types.