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PEHO syndrome

Synonyms
Infantile cerebellooptic atrophy; Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by Anttonen et al., 2017). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Hit1, PEHO, TRIP3, ZNHIT3
    Summary: zinc finger HIT-type containing 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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