diabetes mellitus, permanent neonatal 2
MONDO:0030087Mondo
Findings
No curated finding names diabetes mellitus, permanent neonatal 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Global developmental delayHPOHP:0001263
- 4 of 13 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 4 reported patients
- Bilateral ptosisHPOHP:0001488
- 3 of 13 reported patients
- Downturned corners of mouthHPOHP:0002714
- 3 of 13 reported patients
- Flexion contractureHPOHP:0001371
- 3 of 13 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 13 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 13 reported patients
- Myoclonic seizureHPOHP:0032794
- 1 of 13 reported patients
- Prominent metopic ridgeHPOHP:0005487
- 1 of 13 reported patients
- Decreased circulating C-peptide concentrationHPOHP:0030795
- HyperglycemiaHPOHP:0003074
- Neonatal onset
- KetoacidosisHPOHP:0001993
Show the remaining 1
- Type I diabetes mellitusHPOHP:0100651
- Neonatal onset
Genes
1 gene
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.
- KCNJ11HGNC:6257
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: diabetes mellitus, permanent neonatal 2
- Also called
- PNDM2