neuronal ceroid lipofuscinosis 7 https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 https://www.malacards.org/card/ceroid_lipofuscinosis_neuronal_7_2 neuronal ceroid lipofuscinosis type 7 UMLS:C1838571 DOID:0110722 GARD:0001220 MONDO:0012588 CLN7 disease, late infantile CLN7 disease Orphanet:228366 MEDGEN:325457 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. OMIM:610951 neuronal ceroid lipofuscinosis caused by mutation in MFSD8 MFSD8 neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, 7 ceroid lipofuscinosis, neuronal, type 7 CLN7 MESH:C563989 neuronal ceroid lipofuscinosis 7 late infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis CLN7 disease