Neuronal ceroid lipofuscinosis 15

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a variation in the CLCN6 gene. It is characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Intellectual and speech development is also delayed, and most have visual defects, including cortical visual blindness, nystagmus, and esotropia. The disorder is progressive, as manifest by developmental regression consistent with neurodegeneration.