ceroid lipofuscinosis, neuronal, 6A
Findings
No curated finding names ceroid lipofuscinosis, neuronal, 6A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Definition from the Mondo Disease Ontology (MONDO:0011144), read 2026-09-29. CC BY 4.0.
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 · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
8 names
Resolves to: ceroid lipofuscinosis, neuronal, 6A
- Also called
- ceroid lipofuscinosis, neuronal, type 6CLN6CLN6 late infantile neuronal ceroid lipofuscinosisCLN6Alate infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6neuronal ceroid lipofuscinosis type 6neuronal ceroid lipofuscinosis, late infantile, variantvLINCL