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periventricular nodular heterotopia

Disease Summary
Associated Targets (7)
Tbio

5

Tdark

2


Explore Associated Targets
Mondo Description Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.
Disease Ontology Description A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
Mondo Term and Equivalent IDs
MONDO:0020341:  periventricular nodular heterotopia
GARD:0012724: 
MESH:D054091: 
OMIMPS:300049: 
Orphanet:98892: 
UMLS:C1868720: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)