Features include always present findings: Hypoplasia of the uterus, Inner ear hearing loss (sensorineural hearing impairment), and Streak ovary; and common findings: Secondary amenorrhea and Primary amenorrhea. 7 total HPO annotations.

ERAL1 encodes Era like 12S mitochondrial rRNA chaperone 1 (437 aa). Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Highest expression in Brain Cerebellar Hemisphere (88.6 TPM) and Brain Cerebellum (84.5 TPM).

Perrault syndrome 6 is associated with mutations in the ERAL1 gene on chromosome 17.

ERAL1 is classified as a druggable target with score 0.0.

Genetic testing for ERAL1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 2 common features.

No clinical trials have been registered for Perrault syndrome 6.

5 publications have been identified in PubMed for Perrault syndrome 6. Research spans Review / Meta-Analysis (60%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

• Long X (2025). [PMID: 40410890](https://pubmed.ncbi.nlm.nih.gov/40410890/). *Human genomics*. [Basic Science / Preclinical]

• Tufatulin GS (2025). [PMID: 39936838](https://pubmed.ncbi.nlm.nih.gov/39936838/). *The journal of international advanced otology*. [Review / Meta-Analysis]

• Iqbal M (2024). [PMID: 39483604](https://pubmed.ncbi.nlm.nih.gov/39483604/). *Cureus*. [Review / Meta-Analysis]

• Key J (2024). [PMID: 38927630](https://pubmed.ncbi.nlm.nih.gov/38927630/). *Genes*. [Review / Meta-Analysis]

• Shimanuki MN (2024). [PMID: 39340975](https://pubmed.ncbi.nlm.nih.gov/39340975/). *Auris, nasus, larynx*. [Case Report / Case Series]