ceroid lipofuscinosis, neuronal, 6B (Kufs type)
MONDO:0008768Mondo
Findings
No curated finding names ceroid lipofuscinosis, neuronal, 6B (Kufs type) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset · Middle age onset · Young adult 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.
- Mental deteriorationHPOHP:0001268
- 14 of 14 reported patients
- DementiaHPOHP:0000726
- 9 of 14 reported patients
- AtaxiaHPOHP:0001251
- 7 of 11 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 8 of 14 reported patients
- MyoclonusHPOHP:0001336
- 8 of 14 reported patients
- Focal-onset seizureHPOHP:0007359
- 2 of 14 reported patients
- Status epilepticus without prominent motor symptomsHPOHP:0031475
- 1 of 14 reported patients
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.
- CLN6HGNC:2077
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- Also called
- CLN4ACLN6 neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosis caused by mutation in CLN6neuronal ceroid lipofuscinosis type 4A