infantile cerebellar-retinal degeneration
Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.
MONDO:0016790
tricarboxylic acid cycle disorder
is_a
MONDO:0019118
inherited retinal dystrophy
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MONDO:0024237
inherited neurodegenerative disorder
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ICRD
related
infantile cerebellar retinal degeneration
related
infantile cerebellar-retinal degeneration
exact
SPBP4H10.15 SPAC24C9.06c