Juvenile neuronal ceroid lipofuscinosis

General Information (adopted from Orphanet):

Synonyms, Signs: JNCL
Batten disease
Spielmeyer-Vogt disease
Juvenile NCL
Number of Symptoms 13
OrphanetNr: 79264
OMIM Id: 204200
204500
256730
600143
609055
610127
ICD-10: E75.4
UMLs:
MeSH:
MedDRA: 10052073
Snomed: 61663001

Prevalence, inheritance and age of onset:

Prevalence: 0.46 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral lipidosis with dementia
 -Rare genetic disease
 -Rare neurologic disease
Neuronal ceroid lipofuscinosis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
Progressive myoclonic epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
2
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
3
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
4
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
5
 (HPO:0000649) Abnormality of visual evoked potentials Very frequent [Orphanet] 34 / 7739
6
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
7
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
8
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
9
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
11
 (HPO:0002354) Memory impairment Very frequent [Orphanet] 63 / 7739
12
 (HPO:0002071) Abnormality of extrapyramidal motor function Very frequent [Orphanet] 76 / 7739
13
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: