Stimmler syndrome

MONDO:0008743

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.

Also known as: Stimmler syndrome, ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus, Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Including sub-types (0) Tagged with Stimmler syndrome (0)

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