OMIA:001552 : Neuronal ceroid lipofuscinosis, 12

Categories: Lysosomal storage disease , Nervous system phene

Possible human homologues (MIM numbers): 606693 (trait) , 617225 (trait) , 610513 (gene)

Links to MONDO diseases: No links.

Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN12; NCL12. In humans also known as "also known as Kufor-Rakeb syndrome, PARK9, and spastic paraplegia78" (Schmutz et al., 2019).

Species in which this phene is found:
dog (Canis lupus familiaris)

Edit History


  • Created by Frank Nicholas on 04 Mar 2011
  • Changed by Frank Nicholas on 20 Aug 2013
  • Changed by Frank Nicholas on 15 Feb 2019
  • Changed by Frank Nicholas on 10 Apr 2019
  • Changed by Imke Tammen2 on 17 Apr 2021
  • Changed by Imke Tammen2 on 06 Jul 2021
  • Changed by Imke Tammen2 on 11 Jun 2023