Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ceroid lipofuscinosis, neuronal, 3

OMIM:204200
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolCLN3
DNA Change29kb deletion
A.A. Change
Exon/Intron
Mutation Typedeletion
ReferenceTaschner 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