Disease #01649 (CLN2 (lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)), OMIM:204500)

Official abbreviation CLN2
Name lipofuscinosis, ceroid, neuronal, type 2 (CLN-2)
OMIM ID 204500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 12
Phenotype entries for this disease 10
Associated with 1 gene TPP1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00080806 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - CLN2 Ceroid lipofuscinosis, neuronal, 2 (OMIM:204500) TPP1 TPP1 2 1 Daniel Trujillano
00307860 ? - - M ? Egypt - - - - - CLN2 Childhood-onset, Central hypotonia, Optic atrophy, Visual loss, Optic nerve misrouting, Neurodegeneration, Hyporeflexia, Developmental regression, Rod-cone dystrophy TPP1 TPP1 1 1 Corina-Marcela Rus
00307861 ? - - M yes Egypt - - - - - CLN2 Nystagmus, Seizures, Global developmental delay, Fever, Abnormality of the cerebral white matter, Arachnoid cyst TPP1 TPP1 1 1 Corina-Marcela Rus
00307862 ? - - M ? Egypt - - - - - CLN2 Intellectual disability, Ataxia, Motor delay, Cerebellar atrophy, Failure to thrive, Vomiting TPP1 TPP1 1 1 Corina-Marcela Rus
00307863 ? - - F no India - - - - - CLN2 Seizures, Dystonia, Tremor, Absent speech, Global brain atrophy, Developmental regression, Loss of ability to walk in early childhood TPP1 TPP1 1 1 Corina-Marcela Rus
00307864 ? - - M no Tunisia - - - - - CLN2 Ataxia, Cerebellar hypoplasia, Generalized-onset seizure, Developmental regression, Generalized myoclonic seizures, Seizures TPP1 TPP1 1 1 Corina-Marcela Rus
00307865 ? - - F ? Lebanon - - - - - CLN2 - TPP1 TPP1 1 1 Corina-Marcela Rus
00307866 ? - - M yes Egypt - - - - - CLN2 Visual impairment, Delayed speech and language development, Seizures, Developmental regression Visual impairment, Delayed speech and language development, Seizures, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
00307867 ? - - F yes Lebanon - - - - - CLN2 Intellectual disability, Seizures, Failure to thrive, Neurodegeneration, Generalized-onset seizure, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
00307868 ? - - F yes Egypt - - - - - CLN2 Seizures, Cerebellar atrophy, Myoclonus, Cerebral cortical atrophy, Loss of speech, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
00307869 ? - - F ? Oman - - - - - CLN2 Seizures, Developmental regression TPP1 TPP1 1 1 Corina-Marcela Rus
00433033 - - - M yes Egypt - - - - - CLN2 - - TPP1 1 1 Alaaeldin Fayez
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.