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Definition

An autosomal recessive form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive.

Acronym

PNDM1

Synonyms

DEND
Developmental delay epilepsy and neonatal diabetes
Diabetes mellitus permanent neonatal with neurologic features
PDMI
Permanent diabetes mellitus of infancy

Keywords

Diabetes mellitus

 
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