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GTR Home > Conditions/Phenotypes > Congenital cerebellar hypoplasia

Congenital cerebellar hypoplasia

Synonyms
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay; Isolated cerebellar hypoplasia/agenesis

Summary

Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia and developmental delay with subsequent impaired intellectual development and severe speech delay. In childhood, affected individuals show delayed walking and develop epilepsy that is usually controlled by medication. Brain imaging shows cerebellar hypoplasia/atrophy (summary by Wang et al., 2019). [from OMIM]

Available tests

46 tests are in the database for this condition.

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Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHEGDD, Nbla00307, TLDC3, OXR1
    Summary: oxidation resistance 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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