GFER Syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, few 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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| - GFER Syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, few 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. (en)
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symptoms
| - Congenital cataracts, loss of motor abilities, development delay, degeneration of organs, sometimes hearing loss (en)
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| - GFER syndrome is inherited via autosomal recessive manner (en)
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causes
| - Caused by a mutation in the nuclear GFER gene (en)
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| - GFER Syndrome (also called GFER disease) is a rare mitochondrial disease. GFER was first reported in 2009 and since exome sequencing became more available, few 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. (en)
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