Norrie disease

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Norrie disease

Synonyms: Atrophia bulborum hereditaria | Episkopi blindness | Norrie-Warburg disease

A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay intellectual disability and/or behavioral disorders.

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 December 2023

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