Reverse query / human → dog

neuronal ceroid lipofuscinosis 7.

Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

Which dogs are a natural model of this human disease. Each row is a distinct gene pathway with a canine model, ranked by evidence strength. We assert the canine disease models the human one (gene-level), never that a dog allele equals a human variant.