U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Infantile cerebellar-retinal degeneration

Infantile cerebellar-retinal degeneration

Summary

Infantile cerebellar-retinal degeneration (ICRD) is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al., 2012). A subset of patients may have a milder phenotype with variable features, including ataxia, developmental delay, and behavioral abnormalities (Blackburn et al., 2020). Mutation in the ACO2 gene also causes isolated optic atrophy (OPA9; 616289). [from OMIM]

Available tests

41 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACONM, HEL-S-284, ICRD, OCA8, OPA9, ACO2
    Summary: aconitase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.