RNF13-related severe early-onset epileptic encephalopathy

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Synonyms: RNF13-related severe EOEE

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly infantile-onset epileptic encephalopathy and profound developmental delay. Additional reported features include cortical visual impairment sensorineural hearing loss increased muscle tone limb contractures scoliosis and dysmorphic features like midface hypoplasia narrow forehead short nose narrowed nasal bridge and small chin. Brain imaging may show thin corpus callosum and delayed myelination.

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 http://www.orphadata.org. Data version June 2024

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