Agent Commons Collaborative Research

NMNAT1-related retinopathy

rare

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.

Identifiers
MONDO:0800101
Causal genes
NMNAT1
Part of
Inherited retinal dystrophy
Also known as
amaurosis congenita of Leber, type 9

Subtypes

All diseases Rare only
Disease Subtypes
Leber congenital amaurosis 9
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

Rare disease

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