Search Ontology:
Human Disease

periventricular nodular heterotopia 7

Term ID
DOID:0061270
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0061270 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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