All individuals with variants in gene CLN6

39 entries on 1 page. Showing entries 1 - 39.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00050580 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - ? patent ductus arteriosus, feeding difficulties in infancy, plagiocephaly, asymmetry of the ears, single transverse palmar crease, gingival overgrowth, skin dimples 1 1 Johan den Dunnen
00060287 - PubMed: Faruq 2014, Journal: Faruq 2014 2-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents/sibs F;M no India - - - - - CLN6 see paper; juvenile onset cerebellar ataxia with seizures (JCS), ... 2 4 Johan den Dunnen
00080982 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CLN6 ceroid lipofuscinosis, neuronal 1 1 Daniel Trujillano
00080994 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CLN6 ceroid lipofuscinosis, neuronal 1 1 Daniel Trujillano
00081073 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CLN6 ceroid lipofuscinosis, neuronal 1 1 Daniel Trujillano
00150147 26539891-FamBAB5270 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, cerebellar atrophy, ataxia, cryptorchidism 1 1 Johan den Dunnen
00269900 - - - ? - - - - - - - ? Developmental regression (HP:0002376); Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Myoclonic atonic seizures (HP:0011170); Progressive cerebellar ataxia (HP:0002073); Autistic behavior (HP:0000729); Inability to walk (HP:0002540); Progressive hearing impairment (HP:0001730); Progressive visual loss (HP:0000529); Cerebral cortical atrophy (HP:0002120) 1 1 IMGAG
00291286 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 11 Mohammed Faruq
00291287 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00291288 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00295154 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00307826 ? - - M ? Jordan - - - - - CLN6 HP:0001250,HP:0001263,HP:0002376,HP:0011344 1 1 Corina-Marcela Rus
00307827 ? - - M yes United Arab Emirates - - - - - CLN6 HP:0000505,HP:0001250,HP:0001260,HP:0001332,HP:0001336,HP:0002180,HP:0002376,HP:0002518,HP:0007305,HP:0012444 1 1 Corina-Marcela Rus
00307828 ? - - M ? Egypt - - - - - CLN6 HP:0000280,HP:0001249,HP:0001251,HP:0001257,HP:0001260,HP:0010729 1 1 Corina-Marcela Rus
00307829 ? - - F yes Egypt - - - - - CLN6 HP:0000329,HP:0000750,HP:0001270,HP:0002120,HP:0002123,HP:0002194,HP:0002376,HP:0012444 1 1 Corina-Marcela Rus
00307830 ? - - M ? Egypt - - - - - CLN6 HP:0001251, HP:0001268, HP:0000752 HP:0002273 1 1 Corina-Marcela Rus
00307831 ? - - M yes Egypt - - - - - CLN6 HP:0000543,HP:0001317,HP:0002353,HP:0100704 1 1 Corina-Marcela Rus
00307832 ? - - F yes Iran - - - - - CLN6 HP:0000365,HP:0000608,HP:0000618,HP:0000639,HP:0000648,HP:0000707,HP:0000750,HP:0000952,HP:0001250,HP:0001251,HP:0001272,HP:0002066,HP:0002073,HP:0002376,HP:0007018,HP:0011004,HP:0011170 1 1 Corina-Marcela Rus
00307833 ? - - M yes Iran - - - - - CLN6 HP:0000505,HP:0000733,HP:0000748,HP:0000952,HP:0001028,HP:0001249,HP:0001250,HP:0001252,HP:0001508,HP:0001653,HP:0002180,HP:0002280,HP:0002376,HP:0002465,HP:0004488,HP:0006579,HP:0007018,HP:0007360,HP:0007461,HP:0012501 1 1 Corina-Marcela Rus
00307834 ? - - F ? Egypt - - - - - CLN6 HP:0001250, HP:0001263 1 1 Corina-Marcela Rus
00307835 ? - - M yes Egypt - - - - - CLN6 HP:0001263,HP:0001272,HP:0002376 1 1 Corina-Marcela Rus
00307836 ? - - M yes Tunisia - - - - - CLN6 HP:0000324,HP:0000325,HP:0000426,HP:0000494,HP:0000750,HP:0001249,HP:0001250,HP:0001251,HP:0001270,HP:0001272,HP:0001321,HP:0001999,HP:0002353,HP:0002376,HP:0002415,HP:0002515,HP:0003781,HP:0006808,HP:0007359,HP:0011185,HP:0012447 1 1 Corina-Marcela Rus
00308745 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00314868 Trio27 PubMed: Zhu 2015 - M - Israel - - - - - ? Healthy until 3.5 years then epilepsy with drop attacks, blindness (retinitis pigmentosa). 1 1 Johan den Dunnen
00334904 PME15 PubMed: Courage 2021, Journal: Courage 2021 - F yes Italy - - - - - EPM6 Onset age 14 of ataxia. Severe myoclonus from age 32, TCS, moderate dementia. Dysphagia and pyramidal signs noted. Psychiatric co-morbidities. Severe cerebral, moderate cerebellar atrophy. EEG: photoparoxysmal response. 1 1 Carolina Courage
00374269 S-3555 PubMed: Ganapathy 2019 - - - India - - - - - ? Myoclonic epilepsy and cerebellar atrophy 1 1 Johan den Dunnen
00374270 S-3731 PubMed: Ganapathy 2019 - - - India - - - - - ? Neuroregression, cerebellar ataxia, cerebral atrophy, abnormal gait and myoclonic jerks 1 1 Johan den Dunnen
00374603 R-0691 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00383480 6A PubMed: Dozieres-Puyravel 2020 - ? - France - - - - - CLN retinal dysfunction on ERG, VEP results: atypical 1 1 LOVD
00383481 6B PubMed: Dozieres-Puyravel 2020 - ? - France - - - - - CLN VEP results: ample 1 1 LOVD
00384512 3 PubMed: Ren 2019 AR M no China - - - - - retinal disease - 2 1 LOVD
00384541 21 PubMed: Jilani 2019 - F yes - - - - - - CLN - 1 1 LOVD
00384542 22b PubMed: Jilani 2019 proband 21, family b M ? - - 44y - - - CLN - 1 1 LOVD
00384543 23b PubMed: Jilani 2019 sibling of proband 21, family b F ? - - - - - - CLN - 1 1 LOVD
00384544 24b PubMed: Jilani 2019 sibling of proband 21, family b F ? - - 40y - - - CLN - 1 1 LOVD
00388287 2 PubMed: Kozina 2020 - M no Russia - - - - - CLN Cognitive and motor deterioration, myoclonus, MRI signs of cerebellar cortex atrophy, weight loss 1 1 LOVD
00403875 TF080 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - NDD - 1 1 Johan den Dunnen
00456224 Pat2 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... (detailed) 1 1 Johan den Dunnen
00456256 Pat34 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - ? see paper; ... 1 1 Johan den Dunnen
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.