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Features include always present findings: Diabetes mellitus, Bilateral tonic-clonic seizure, Microcephaly, and Small for gestational age and others; and very common findings: Global developmental delay. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Bilateral tonic-clonic seizure, Global developmental delay |
YIPF5 function has not been fully characterized.
Microcephaly, epilepsy, and diabetes syndrome 2 is associated with mutations in the YIPF5 gene on chromosome 5.
Genetic testing for YIPF5 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 1 very common feature.
No clinical trials have been registered for microcephaly, epilepsy, and diabetes syndrome 2.
10 publications have been identified in PubMed for microcephaly, epilepsy, and diabetes syndrome 2. Research spans Basic Science / Preclinical (60%), Review / Meta-Analysis (20%), and Case Report / Case Series (10%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 | 60% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Hormones |
1 |
Diabetes mellitus |
Head and neck | 1 | Microcephaly |
Blood and immune system | 1 | Elevated hemoglobin A1c |
Age of onset: infancy, at birth.
Research summaries
2 |
20% |
Patient case studies | 1 | 10% |
Disease patterns and progression | 1 | 10% |
Resnick O (2026). [PMID: 41684880](https://pubmed.ncbi.nlm.nih.gov/41684880/). *JCEM case reports*. [Case Report / Case Series]
Bruno F (2026). [PMID: 41717013](https://pubmed.ncbi.nlm.nih.gov/41717013/). *iScience*. [Basic Science / Preclinical]
Montaser H (2025). [PMID: 39441964](https://pubmed.ncbi.nlm.nih.gov/39441964/). *Diabetes*. [Basic Science / Preclinical]
Di Pasquale G (2025). [PMID: 40970566](https://pubmed.ncbi.nlm.nih.gov/40970566/). *Clinical genetics*. [Review / Meta-Analysis]
Medinas DB (2025). [PMID: 40719631](https://pubmed.ncbi.nlm.nih.gov/40719631/). *Biochemical Society transactions*. [Basic Science / Preclinical]
Virgilio E (2025). [PMID: 40924476](https://pubmed.ncbi.nlm.nih.gov/40924476/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Laver TW (2025). [PMID: 40819284](https://pubmed.ncbi.nlm.nih.gov/40819284/). *European journal of endocrinology*. [Review / Meta-Analysis]
Wiśniewska K (2024). [PMID: 38534785](https://pubmed.ncbi.nlm.nih.gov/38534785/). *Current issues in molecular biology*. [Basic Science / Preclinical]
Anitei M (2024). [PMID: 39115595](https://pubmed.ncbi.nlm.nih.gov/39115595/). *Cellular and molecular life sciences : CMLS*. [Basic Science / Preclinical]
Barbetti F (2024). [PMID: 39344692](https://pubmed.ncbi.nlm.nih.gov/39344692/). *Journal of diabetes investigation*. [Epidemiology / Natural History]
AI-curated news mentioning microcephaly, epilepsy, and diabetes syndrome 2
Updated Apr 18, 2026
prenatal diagnosis of renal cysts and diabetes syndrome rcad a case report