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. [ https://clinicalgenome.org/affiliation/40072/ ]
Synonyms: NMNAT1-related retinopathy
Term information
rare, inferred_rare, clingen
SHILCA Syndrome
Leber congenital amaurosis caused by mutation in NMNAT1
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
NMNAT1 Leber congenital amaurosis
Leber congenital amaurosis 9
LCA9
SHILCA
Leber congenital amaurosis type 9