MROH2B
mroh2b: A Rare and Complex Genetic Condition
Description
mroh2b is a rare genetic condition characterized by mutations in the MORC2B gene. This gene provides instructions for making a protein called microtubule-organizing center protein 2B (MORC2B), which is essential for spindle formation and chromosome segregation during cell division. Mutations in MORC2B disrupt the function of this protein, leading to abnormal cell division and ultimately to mroh2b syndrome.
Associated Diseases
The primary manifestation of mroh2b is intellectual disability. Other associated features may include:
- Microcephaly (small head size)
- Facial dysmorphism (distinctive facial features)
- Speech and language difficulties
- Developmental delay
- Autism spectrum disorder
- Seizures
- Hypotonia (weak muscle tone)
- Hearing loss
- Visual problems
Did you Know ?
mroh2b is an extremely rare condition, affecting approximately 1 in 100,000 individuals worldwide.
