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periventricular nodular heterotopia 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene.
Uniprot Description A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH7 is an autosomal dominant disease characterized by delayed psychomotor development, intellectual disability, and seizures in some patients. Additional features include cleft palate and toe syndactyly.
Mondo Term and Equivalent IDs
MONDO:0014966:  periventricular nodular heterotopia 7
UMLS:C4310669: