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Metadata
ID DOID:0061270
PURL http://purl.obolibrary.org/obo/DOID_0061270 Copy
Name periventricular nodular heterotopia 7
Definition A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients develop seizures that has_material_basis_in heterozygous mutation in the NEDD4L gene on chromosome 18q21.
https://pubmed.ncbi.nlm.nih.gov/27694961/
Xrefs

MIM:617201

Parent Relationships

is_a autosomal dominant disease

is_a periventricular nodular heterotopia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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