Late infantile neuronal ceroid lipofuscinosis

General Information (adopted from Orphanet):

Synonyms, Signs: LINCL
Jansky-Bielschowsky disease
Late infantile NCL
Number of Symptoms 24
OrphanetNr: 168491
OMIM Id: 204500
256730
256731
600143
601780
610127
610951
ICD-10: E75.4
UMLs:
MeSH:
MedDRA:
Snomed: 14637005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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:0000649) Abnormality of visual evoked potentials Very frequent [Orphanet] 34 / 7739
2
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
3
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
4
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
5
 (HPO:0000546) Retinal degeneration 61 / 7739
6
 (HPO:0000550) Undetectable electroretinogram 25 / 7739
7
 (HPO:0000529) Progressive visual loss 54 / 7739
8
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
9
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
 (HPO:0000750) Delayed speech and language development 197 / 7739
11
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
12
 (HPO:0001311) Abnormal nervous system electrophysiology 4 / 7739
13
 (HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
14
 (HPO:0001336) Myoclonus 115 / 7739
15
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
16
 (HPO:0002376) Developmental regression 74 / 7739
17
 (HPO:0001251) Ataxia 413 / 7739
18
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
19
 (HPO:0003205) Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 10 / 7739
20
 (HPO:0002074) Increased neuronal autofluorescent lipopigment 10 / 7739
21
 (HPO:0003463) Increased extraneuronal autofluorescent lipopigment 3 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (HPO:0002059) Cerebral atrophy 171 / 7739
24
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: