NMNAT1-related retinopathy
A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association.
MONDO:0019118
inherited retinal dystrophy
is_a
LCA9
narrow
Leber congenital amaurosis 9
narrow
Leber congenital amaurosis caused by mutation in NMNAT1
narrow
Leber congenital amaurosis type 9
narrow
NMNAT1 Leber congenital amaurosis
narrow
NMNAT1-related retinopathy
exact
SHILCA
narrow
SHILCA Syndrome
narrow
amaurosis congenita of Leber, type 9
related
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
narrow
SPAC806.06c