neuronal ceroid lipofuscinosis 13
Findings
No curated finding names neuronal ceroid lipofuscinosis 13 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 CTSF gene.
Definition from the Mondo Disease Ontology (MONDO:0014147), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
17 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.
- DementiaHPOHP:0000726
- 4 of 4 reported patients
- Diffuse cerebral atrophyHPOHP:0002506
- 4 of 4 reported patients
- Mental deteriorationHPOHP:0001268
- 4 of 4 reported patients
- AtaxiaHPOHP:0001251
- 3 of 4 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 4 reported patients
- DysarthriaHPOHP:0001260
- 3 of 4 reported patients
- TremorHPOHP:0001337
Show the remaining 5
- Focal-onset seizureHPOHP:0007359
- 1 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 4 reported patients
- Neuronal loss in central nervous systemHPOHP:0002529
- 1 of 4 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 4 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.
- CTSFHGNC:2531
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
6 names
Resolves to: neuronal ceroid lipofuscinosis 13
- Also called
- ceroid lipofuscinosis, neuronal, 13 (Kufs type)ceroid lipofuscinosis, neuronal, type 13CLN13CTSF neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosis caused by mutation in CTSFneuronal ceroid lipofuscinosis type 13