Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Synonyms: Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome | PEBAS
A rare genetic neurological disorder characterized by early-onset severe global developmental delay with regression congenital or acquired microcephaly hearing loss truncal hypotonia appendicular spasticity and dystonia and/or myoclonus.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome?
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