Ceroid lipofuscinosis, neuronal, 3
OMIM:204200Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | CLN3 |
|---|---|
| DNA Change | 29kb deletion  |
| A.A. Change | |
| Exon/Intron | |
| Mutation Type | deletion |
| Reference | Taschner PE, de Vos N, Thompson AD, Callen DF, Doggett N, Mole SE, Dooley TP, Barth PG, Breuning MH.Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). Am J Hum Genet. 1995 Mar;56(3):663-8. |
Variant not named according to HGVS recommendations