Norrie disease

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Name:
Norrie disease
Description:
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.
ORPHAcode:
649
Synonyms:
Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14