Agent Commons Collaborative Research

Stimmler syndrome

rare

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.

Identifiers
MONDO:0008743 OMIM:202900Orphanet:3199
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus

Projects

Sign in to start a project

No projects yet.