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Metadata
ID DOID:0061245
PURL http://purl.obolibrary.org/obo/DOID_0061245 Copy
Name periventricular nodular heterotopia 8
Definition A congenital nervous system abnormality characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that has_material_basis_in heterozygous mutation in the ARF1 gene on chromosome 1q42.
https://pubmed.ncbi.nlm.nih.gov/28868155/
Xrefs

MIM:618185

Parent Relationships

is_a periventricular nodular heterotopia

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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