MIPEP encodes mitochondrial intermediate peptidase (713 aa). Cleaves proteins, imported into the mitochondrion, to their mature size Highest expression in Skin Sun Exposed Lower leg (26.7 TPM) and Skin Not Sun Exposed Suprapubic (26.3 TPM).

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is associated with mutations in the MIPEP gene on chromosome 13.

MIPEP is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

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

Phenotype severity distribution: 9 always present features, 5 common features.

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

No clinical trials have been registered for lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome.

3 publications have been identified in PubMed for lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

• Yoshikai M (2026). [PMID: 41640829](https://pubmed.ncbi.nlm.nih.gov/41640829/). *Surgical case reports*. [Case Report / Case Series]

• Herrell C (2025). [PMID: 41189828](https://pubmed.ncbi.nlm.nih.gov/41189828/). *Cureus*. [Case Report / Case Series]

• Dynlacht JR (2025). [PMID: 41101767](https://pubmed.ncbi.nlm.nih.gov/41101767/). *Radiation research*. [Basic Science / Preclinical]