microcephaly, epilepsy, and diabetes syndrome 2
MONDO:0025690Mondo
Findings
No curated finding names microcephaly, epilepsy, and diabetes syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 6 of 6 reported patients · Infantile onset
- Diabetes mellitusHPOHP:0000819
- 6 of 6 reported patients
- Elevated hemoglobin A1cHPOHP:0040217
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 6 reported patients
- Small for gestational ageHPOHP:0001518
- 6 of 6 reported patients · Congenital onset
- Global developmental delayHPOHP:0001263
- 5 of 6 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 4 reported patients
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.
- YIPF5HGNC:24877
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: microcephaly, epilepsy, and diabetes syndrome 2
- Also called
- MEDS2