Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 15

Term ID
DOID:0061189
Synonyms
Definition
A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/33217309/
References
Ontology
Human Disease   ( DOID:0061189 )
Relationships
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Genes Involved
Zebrafish Models