Norrie disease
A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0020247
congenital vitreoretinal dysplasia
is_a
MONDO:0700377
NDP-related vitreoretinopathy
is_a
Anderson-Warburg syndrome
related
Episkopi blindness
exact
ND
related
NDP
related
Norrie disease
exact
Norrie disease, X-linked recessive
exact
Norrie syndrome
related
Norrie-Warburg disease
exact
Norrie-Warburg syndrome
related
atrophia bulborum hereditaria
exact
fetal iritis syndrome
related
foetal iritis syndrome
related
pseudoglioma
related