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