Stimmler syndrome

Definition

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.

Disease data

Classification

Malformation syndrome

ORPHA code

3199

OMIM code

202900

ICD10 code

Q87.1

ICD11 code

*Soruce