diabetes mellitus, permanent neonatal 3
MONDO:0030088Mondo
Findings
No curated finding names diabetes mellitus, permanent neonatal 3 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
12 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.
- AthetosisHPOHP:0002305
- 1 of 1 reported patient
- Delayed early-childhood social milestone developmentHPOHP:0012434
- 1 of 1 reported patient
- Difficulty standingHPOHP:0003698
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- GlycosuriaHPOHP:0003076
- 1 of 1 reported patient
- HyperglycemiaHPOHP:0003074
- 1 of 1 reported patient
- Interictal epileptiform activityHPOHP:0011182
- 1 of 1 reported patient
- KetonuriaHPOHP:0002919
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
- Type I diabetes mellitusHPOHP:0100651
- 1 of 1 reported patient · 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.
- ABCC8HGNC:59
- Definitive · Ambry Genetics · Semidominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: diabetes mellitus, permanent neonatal 3
- Also called
- PNDM3