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Metadata
ID DOID:0061189
Name neuronal ceroid lipofuscinosis 15
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/
Xrefs

MIM:619173
Parent Relationships

is_a autosomal dominant disease

is_a neuronal ceroid lipofuscinosis
Subclass Logical Relationships

existence starts during some Infantile onset or existence starts during some Childhood onset

has material basis in some autosomal dominant inheritance

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