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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:infantile cerebellar-retinal degeneration
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Accession:EFO:MONDO:0013802 term browser browse the term
Definition: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.
Synonyms:related_synonym: ICRD
 alt_id: MONDO:0013802
 xref: DOID:0050883;   GARD:13264;   MEDGEN:482822;   MIM:614559;   ORDO:313850;   UMLS:C3281192
 see_also: https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration" xsd:anyURI {source="GARD:0013264


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of visual system 0
            eye disease 0
              eye degenerative disorder 0
                infantile cerebellar-retinal degeneration 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          head and neck disorder 0
            disease of orbital region 0
              eye disease 0
                retinopathy 0
                  retinal degeneration 0
                    inherited retinal dystrophy 0
                      infantile cerebellar-retinal degeneration 0
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