neuronal ceroid lipofuscinosis 8
Findings
No curated finding names neuronal ceroid lipofuscinosis 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.
Definition from the Mondo Disease Ontology (MONDO:0010830), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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.
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- Developmental regressionHPOHP:0002376
- 6 of 6 reported patients
- Fingerprint intracellular accumulation of autofluorescent lipopigment storage materialHPOHP:0003208
- 6 of 6 reported patients
- Loss of ambulationHPOHP:0002505
- 3 of 3 reported patients · Juvenile onset
- MyoclonusHPOHP:0001336
- 4 of 4 reported patients
- Progressive visual lossHPOHP:0000529
- 6 of 6 reported patients
- Seizure
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.
- CLN8HGNC:2079
- Definitive · Ambry Genetics · Autosomal recessive · 2015
- 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 · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: neuronal ceroid lipofuscinosis 8
- Also called
- ceroid lipofuscinosis, neuronal, type 8CLN8CLN8 neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosis caused by mutation in CLN8neuronal ceroid lipofuscinosis type 8