late infantile-onset neuronal ceroid lipofuscinosis type 7
Etiology
germline mutations in late infantile-onset neuronal ceroid lipofuscinosis type 7 (CLN7) (MIM.610951)
See also
neuronal ceroid lipofuscinoses
References
Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. PMID: 17564970