DEND syndrome
Findings
No curated finding names DEND syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
Definition from the Mondo Disease Ontology (MONDO:0019207), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperglycemiaHPOHP:0003074
- Obligate (100% of cases)
- Elevated hemoglobin A1cHPOHP:0040217
- Very frequent (80% to 99% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- Mild global developmental delayHPOHP:0011342
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
- Bilateral ptosisHPOHP:0001488
- Occasional (5% to 29% of cases)
- Clinodactyly of the 4th fingerHPOHP:0040025
- Occasional (5% to 29% of cases)
- DehydrationHPOHP:0001944
- Occasional (5% to 29% of cases)
- Downturned corners of mouthHPOHP:0002714
- Occasional (5% to 29% of cases)
- HypsarrhythmiaHPOHP:0002521
- Occasional (5% to 29% of cases)
Reported absent (1)
- Autoimmune antibody positivityHPOHP:0030057
Show the remaining 6
- Long philtrumHPOHP:0000343
- Occasional (5% to 29% of cases)
- Peripheral neuropathyHPOHP:0009830
- Occasional (5% to 29% of cases)
- Prominent metopic ridgeHPOHP:0005487
- Occasional (5% to 29% of cases)
- Short noseHPOHP:0003196
- Occasional (5% to 29% of cases)
- Thickened earsHPOHP:0009894
- Occasional (5% to 29% of cases)
- VomitingHPOHP:0002013
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
2 names
Resolves to: DEND syndrome
- Also called
- developmental delay-epilepsy-neonatal diabetes syndromeK ATP associated developmental delay, epilepsy and neonatal diabetes