MIRLET7DHG
Description
Mirlet7dhg is a rare genetic disorder characterized by a combination of distinctive physical features and developmental delays. It is caused by mutations in the MIRLET7DHG gene, which provides instructions for making a protein that plays a crucial role in the formation and function of mitochondria, the energy powerhouses of cells.
Associated Diseases
- Intellectual disability
- Developmental delays
- Epilepsy
- Autism spectrum disorder
- Mitochondrial disorders
- Cardiomyopathy
- Optic atrophy
- Hearing loss
Did you Know ?
According to the National Institutes of Health (NIH), Mirlet7dhg affects approximately 1 in 50,000 people worldwide.
