has material basis in germline mutation in NMNAT1 inherited retinal dystrophy NMNAT1-related retinopathy https://github.com/monarch-initiative/mondo/issues/4937 SHILCA Syndrome Leber congenital amaurosis 9 Leber congenital amaurosis type 9 MONDO:0800101 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. GARD:0026434 NMNAT1 Leber congenital amaurosis LCA9 SHILCA NMNAT1-related retinopathy Leber congenital amaurosis caused by mutation in NMNAT1 amaurosis congenita of Leber, type 9 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis