neuronal ceroid lipofuscinosis 11
Findings
No curated finding names neuronal ceroid lipofuscinosis 11 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 GRN gene.
Definition from the Mondo Disease Ontology (MONDO:0013866), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Rapidly progressive · Intermediate young adult onset
HPO, annotations 2026-09-02
Features
10 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
- 2 of 2 reported patients
- EEG with generalized polyspikesHPOHP:0012001
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Visual impairmentHPOHP:0000505
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 2 reported patients
- Generalized myoclonic seizureHPOHP:0002123
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.
- GRNHGNC:4601
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: neuronal ceroid lipofuscinosis 11
- Also called
- ceroid lipofuscinosis, neuronal, type 11CLN11GRN neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosis caused by mutation in GRNneuronal ceroid lipofuscinosis type 11