diabetes mellitus, permanent neonatal 4
MONDO:0030089Mondo
Findings
No curated finding names diabetes mellitus, permanent neonatal 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Decreased circulating C-peptide concentrationHPOHP:0030795
- Diabetic ketoacidosisHPOHP:0001953
- Neonatal onset
- Elevated hemoglobin A1cHPOHP:0040217
- HyperglycemiaHPOHP:0003074
- Neonatal onset
- Small for gestational ageHPOHP:0001518
- Congenital onset
- 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.
- INSHGNC:6081
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: diabetes mellitus, permanent neonatal 4
- Also called
- PNDM4