Disease #02390 (CLN6 (lipofuscinosis, ceroid, neuronal, type 6 (CLN-6)), OMIM:601780)

Official abbreviation CLN6
Name lipofuscinosis, ceroid, neuronal, type 6 (CLN-6)
OMIM ID 601780
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene CLN6
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

15 entries on 1 page. Showing entries 1 - 15.
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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), ... CLN6 CLN6 2 4 Johan den Dunnen
00080982 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CLN6 ceroid lipofuscinosis, neuronal CLN6 CLN6 1 1 Daniel Trujillano
00080994 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CLN6 ceroid lipofuscinosis, neuronal CLN6 CLN6 1 1 Daniel Trujillano
00081073 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - CLN6 ceroid lipofuscinosis, neuronal CLN6 CLN6 1 1 Daniel Trujillano
00307826 ? - - M ? Jordan - - - - - CLN6 HP:0001250,HP:0001263,HP:0002376,HP:0011344 CLN6 CLN6 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 CLN6 CLN6 1 1 Corina-Marcela Rus
00307828 ? - - M ? Egypt - - - - - CLN6 HP:0000280,HP:0001249,HP:0001251,HP:0001257,HP:0001260,HP:0010729 CLN6 CLN6 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 CLN6 CLN6 1 1 Corina-Marcela Rus
00307830 ? - - M ? Egypt - - - - - CLN6 HP:0001251, HP:0001268, HP:0000752 HP:0002273 CLN6 CLN6 1 1 Corina-Marcela Rus
00307831 ? - - M yes Egypt - - - - - CLN6 HP:0000543,HP:0001317,HP:0002353,HP:0100704 CLN6 CLN6 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 CLN6 CLN6 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 CLN6 CLN6 1 1 Corina-Marcela Rus
00307834 ? - - F ? Egypt - - - - - CLN6 HP:0001250, HP:0001263 CLN6 CLN6 1 1 Corina-Marcela Rus
00307835 ? - - M yes Egypt - - - - - CLN6 HP:0001263,HP:0001272,HP:0002376 CLN6 CLN6 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 CLN6 CLN6 1 1 Corina-Marcela Rus
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