GFER syndrome

GFER syndrome
GFER syndrome is inherited via autosomal recessive manner
SymptomsCongenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss
CausesCaused by a mutation in the nuclear GFER gene

GFER syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, more cases were discovered. In all known cases, the disease progresses with conditions that include: congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss, etc.

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