has material basis in germline mutation in CLN6 ceroid lipofuscinosis, neuronal, 6A https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6 https://www.malacards.org/card/ceroid_lipofuscinosis_neuronal_6a CLN6 neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant CLN6 disease, adult Kufs type A (subtype) ceroid lipofuscinosis, neuronal, 6 CLN6A ceroid lipofuscinosis, neuronal, type 6 neuronal ceroid lipofuscinosis type 6 CLN6 late infantile neuronal ceroid lipofuscinosis MONDO:0011144 Biallelic mutation in the CLN6 gene can also cause juvenile or adult-onset CLN, known as Kufs disease (MONDO:0008768). GARD:0001224 OMIM:601780 MESH:C566627 vLINCL DOID:0110729 late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6 Orphanet:228363 neuronal ceroid lipofuscinosis, late infantile, variant MEDGEN:1790423 CLN6 disease, late infantile (subtype) A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. UMLS:C5551375 late infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis