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GTR Home > Conditions/Phenotypes > PEHO-like syndrome

PEHO-like syndrome

Synonyms
PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. There is evidence the disease is caused by homozygous mutation in the CCDC88A gene on chromosome 2p16. [from SNOMEDCT_US]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APE, GIRDIN, GIV, GRDN, HkRP1, KIAA1212, PEHO, PEHOL, CCDC88A
    Summary: coiled-coil domain containing 88A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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