Norrie disease

Orpha code: 649OMIM code: 310600

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Atrophia bulborum hereditaria
Choroba Norriego i Warburga
Dziedziczna atrofia opuszkowa
Ślepota Episkopi
Episkopi blindness
Norrie-Warburg disease
Kod ORPHA
649
Kod OMIM
310600
Kod ICD10
H35.5
Kod ICD11
LD21.Y

No additional description.

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