Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
DEND syndrome (developmental delay, epilepsy, and neonatal diabetes mellitus) is a dominant disorder and a special form of permanent neonatal diabetes mellitus (PNDM) caused by specific KCNJ11 mutations. It is characterized by additional neurological symptoms as delayed cognitive development and epilepsy.
Permanent neonatal diabetes mellitus
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ABCC8
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Developmental delay, epilepsy, and neonatal diabetes
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KCNJ11
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GCK
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INS
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KCNJ11
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Phosphoribosylpyrophosphate synthetase superactivity
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Wolcott-Rallison syndrome
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