Individuals with pathogenic mutations in RMND1 can have a very wide combination of symptoms. Most often patients experience problems since infancy with reduced tone (floppy baby), delay in acquiring milestones as a child, reduced ability to hear (deafness) and kidney disease. Children with this condition often have a shorter lifespan due to complications of kidney disease and brain involvement. Despite onset in infancy is common, older individual with RMND1 mutations have been reported and often share similar features as the infantile form but milder. RMND1 defects have also been reported in adults with ovarian insufficiency and deafness.
RMND1