periventricular nodular heterotopia 7 Disease Ontology Browser

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Disease Ontology Browser

periventricular nodular heterotopia 7 (DOID:0061270)
Alliance: disease page
Alt IDs: OMIM:617201
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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