Features include always present findings: Bilateral tonic-clonic seizure, Hypsarrhythmia, Diabetes mellitus, and Global developmental delay and others; and common findings: Delayed CNS myelination, Generalized myoclonic seizure, Low muscle tone (hypotonia), and Myoclonic seizure and others. 40 total HPO annotations.

IER3IP1 encodes immediate early response 3 interacting protein 1 (82 aa). Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size. Required for secretion of extracellular matrix proteins. Highest expression in Cells Cultured fibroblasts (41.4 TPM) and Pituitary (26.4 TPM).

Microcephaly, epilepsy, and diabetes syndrome 1 is associated with mutations in the IER3IP1 gene on chromosome 18.

IER3IP1 is classified as a druggable target with score 0.0.

Genetic testing for IER3IP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly, epilepsy, and diabetes syndrome 1 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for microcephaly, epilepsy, and diabetes syndrome 1.

79 publications have been identified in PubMed for microcephaly, epilepsy, and diabetes syndrome 1. Research spans Epidemiology / Natural History (34%), Review / Meta-Analysis (23%), and Clinical Trial Publication (22%).