PEHO-like syndrome

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PEHO-like syndrome

PEHO-like syndrome is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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PEHO-like syndrome?

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