Infantile type neuronal ceroid lipofuscinosis is a rare genetic disorder that affects the nervous system, causing it to deteriorate. It is caused by a genetic mutation in the CLN3 gene, which encodes for an enzyme called palmitoyl protein thioesterase-1 (PPT1). People with infantile type neuronal ceroid lipofuscinosis have too much lipofuscin in their brains, spinal cords, and other organs at birth or soon after.  Read More

Megalocornea-mental retardation (MMR) syndrome, otherwise known as Neuhauser syndrome, is an extremely rare genetic disorder characterized by distinctive abnormalities of the eye, several degrees of cognitive impairment, and a wide variety of additional symptoms The range and severity of the symptoms varies greatly from one person to another, which has led some researchers to suggest that MMR syndrome encompasses several distinct, but similar  Read More