has material basis in germline mutation in ACO2 infantile cerebellar-retinal degeneration https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration https://www.malacards.org/card/infantile_cerebellar_retinal_degeneration GARD:0013264 MEDGEN:482822 MONDO:0013802 OMIM:614559 UMLS:C3281192 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. infantile cerebellar retinal degeneration DOID:0050883 Orphanet:313850 ICRD tricarboxylic acid cycle disorder inherited retinal dystrophy inherited neurodegenerative disorder