neuronal ceroid lipofuscinosis 3
Findings
No curated finding names neuronal ceroid lipofuscinosis 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Definition from the Mondo Disease Ontology (MONDO:0008767), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialHPOHP:0003208
- 1 of 1 reported patient
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- ParkinsonismHPOHP:0001300
- 1 of 1 reported patient
- Progressive visual lossHPOHP:0000529
- 1 of 1 reported patient
- Psychomotor deteriorationHPOHP:0002361
- 1 of 1 reported patient
- Reduced visual acuityHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CLN3HGNC:2074
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
6 names
Resolves to: neuronal ceroid lipofuscinosis 3
- Also called
- ceroid lipofuscinosis, neuronal, type 3CLN3CLN3 neuronal ceroid lipofuscinosisJuvenile CLN3 Diseaseneuronal ceroid lipofuscinosis caused by mutation in CLN3neuronal ceroid lipofuscinosis type 3