Ceroid lipofuscinosis, neuronal, 6
OMIM:601780Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | CLN6 |
|---|---|
| Reference transcript | NM_017882.2 |
| DNA Change | c.460_462delATC |
| A.A. Change | p.I154del |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A, Yahyaoui M.CLN6 p.I154del Mutation Causing Late Infantile Neuronal Ceroid Lipofuscinosis in a Large Consanguineous Moroccan Family. Indian J Pediatr. 2012 Nov 22. |