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