Disease #03909 (CLN13 (lipofuscinosis, ceroid, neuronal, type 13 (CLN-13, Kufs type)), OMIM:615362)

Official abbreviation CLN13
Name lipofuscinosis, ceroid, neuronal, type 13 (CLN-13, Kufs type)
OMIM ID 615362
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CTSF
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

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00307874 ? - - M yes India - - - - - CLN13 Urinary incontinence, Dementia, Impaired social interactions, Lethargy, Mental deterioration, Hepatic steatosis, Frontotemporal cerebral atrophy, Social and occupational deterioration, Speech apraxia, Brain atrophy, Impairment of activities of daily living CTSF CTSF 1 1 Corina-Marcela Rus
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