Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis (SHILCA)

Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis, also known as spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis, is related to leber congenital amaurosis 9 and leber plus disease. An important gene associated with Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis is NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1), and among its related pathways/superpathways is Ciliopathies. Affiliated tissues include eye and bone, and related phenotypes are coarse facial features and global developmental delay